Cluster(s) Orphanet Aandoening Orphacode Patiëntenorganisatie P PNR -U UNR Rare genetic diseases ABeta amyloidosis, Dutch type ORPHA:100006 Vereniging HCHWA-D P 14 U 2003 Rare neurological diseases Rare respiratory diseases Tubular duplication of the esophagus ORPHA:100048 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 495 Rare surgical thoracic diseases Rare surgical thoracic diseases Neurogenic thoracic outlet syndrome ORPHA:100073 RSI-vereniging P 305 U 6 Rare neurological diseases Neurogenic thoracic outlet syndrome ORPHA:100073 Spierziekten NL P 43 U 1418 Rare neoplastic diseases Laryngeal neuroendocrine tumor ORPHA:100083 ST NET-Groep P 62 U 1199 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Middle ear neuroendocrine tumor ORPHA:100084 ST NET-Groep P 62 U 1200 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare endocrine diseases Thyroid tumor ORPHA:100087 Schildklier Organisatie NL (SON) P 60 U 1214 Rare neoplastic diseases Rare endocrine diseases Thyroid tumor ORPHA:100087 Schildklier Organisatie NL (SON) P 60 U 1213 Rare endocrine diseases Thyroid Tumor ORPHA:100087 Schildklier Organisatie NL (SON) P 60 U 1215 Rare neoplastic diseases Rare endocrine diseases Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) P 60 U 1216 Rare endocrine diseases Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) P 60 U 1219 Rare neoplastic diseases Rare endocrine diseases Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) P 60 U 1217 Rare neoplastic diseases Rare bone diseases Thyroid carcinoma ORPHA:100088 Schildklier Organisatie NL (SON) P 60 U 1218 Rare endocrine diseases Rare endocrine diseases Adrenal/paraganglial tumor ORPHA:100091 Bijniervereniging (NVACP) P 64 U 1141 Rare endocrine diseases Adrenal/paraganglial tumor ORPHA:100091 Bijniervereniging (NVACP) P 64 U 1142 Rare neoplastic diseases Rare urogenital diseases Rare endocrine diseases Adrenal/paraganglial tumor ORPHA:100091 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1847 Rare neoplastic diseases Rare urogenital diseases Rare neoplastic diseases Gastroenteropancreatic neuroendocrine neoplasm ORPHA:100092 ST NET-Groep P 62 U 1201 Rare respiratory diseases Rare neoplastic diseases Thymic tumor ORPHA:100100 Longkankervereniging P 204 U 190 Rare respiratory diseases Rare neoplastic diseases Thymic tumor ORPHA:100100 Longkankervereniging P 204 U 191 Rare developmental anomalies during Rare non-syndromic intellectual disability ORPHA:101685 EMB NL P 285 U 67 embryogenesis Rare genetic diseases Rare non-syndromic intellectual disability ORPHA:101685 EMB NL P 285 U 68 Rare neurological diseases Rare developmental anomalies during Rare non-syndromic intellectual disability ORPHA:101685 ST Complex Care United P 306 U 3 embryogenesis Rare genetic diseases Rare non-syndromic intellectual disability ORPHA:101685 ST Complex Care United P 306 U 4 Rare neurological diseases Rare genetic diseases Rare non-syndromic intellectual disability ORPHA:101685 ST Grin Syndroom P 313 U 2004 Rare neurological diseases Rare cardiac diseases Genetic cardiac rhythm disease ORPHA:101934 Harteraad P 58 U 1238 Rare cardiac diseases Genetic cardiac rhythm disease ORPHA:101934 Harteraad P 58 U 1240 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Genetic cardiac rhythm disease ORPHA:101934 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 2019 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare cardiac diseases Genetic cardiac rhythm disease ORPHA:101934 ST ICD dragers NL (STIN) P 206 U 181 Rare cardiac diseases Genetic cardiac rhythm disease ORPHA:101934 ST ICD dragers NL (STIN) P 206 U 183 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Genetic cardiac rhythm disease ORPHA:101934 ST ICD dragers NL (STIN) P 206 U 182 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare gastroenterologic diseases Rare pancreatic disease ORPHA:101937 Alvleeskliervereniging (AVKV) P 87 U 886 Rare gastroenterologic diseases Rare pancreatic disease ORPHA:101937 Alvleeskliervereniging (AVKV) P 87 U 887 Rare hepatic diseases Rare vascular liver disease ORPHA:101938 NLse Leverpatiënten Vereniging (NLV) P 19 U 1653 Rare hepatic diseases Rare hepatic and biliary tract tumor ORPHA:101943 NLse Leverpatiënten Vereniging (NLV) P 19 U 1655 Rare neoplastic diseases Rare gastroenterologic diseases Rare hepatic and biliary tract tumor ORPHA:101943 NLse Leverpatiënten Vereniging (NLV) P 19 U 1654 Rare neoplastic diseases Rare hepatic diseases Rare hepatic and biliary tract tumor ORPHA:101943 NLse Leverpatiënten Vereniging (NLV) P 19 U 1656 Rare allergic disease Rare pulmonary disease ORPHA:101944 Zonder patiëntenorganisatie P nvt U 520 Rare respiratory diseases Rare ophthalmic disorders Rare eye tumor ORPHA:101950 NFK-Patiëntenplatform zeldzame kankers P 18 U 1706 Rare bone diseases Rare Diabetes Mellitus ORPHA:101952 Diabetes Vereniging NL (DVN) P 103 U 667 Rare endocrine diseases Rare endocrine diseases Rare dyslipidemia ORPHA:101953 Harteraad P 58 U 1857 Rare inborn errors of metabolism Rare dyslipidemia ORPHA:101953 Harteraad P 58 U 1859 Rare endocrine diseases Rare dyslipidemia ORPHA:101953 Harteraad P 58 U 1858 Rare inborn errors of metabolism Rare endocrine diseases Rare dyslipidemia ORPHA:101953 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1294 Rare inborn errors of metabolism Rare dyslipidemia ORPHA:101953 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1296 Rare endocrine diseases Rare dyslipidemia ORPHA:101953 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1295 Rare inborn errors of metabolism Rare bone diseases Rare adrenal disease ORPHA:101954 Bijniervereniging (NVACP) P 64 U 1143 Rare endocrine diseases Rare endocrine diseases Rare adrenal disease ORPHA:101954 Bijniervereniging (NVACP) P 64 U 1145 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare adrenal disease ORPHA:101954 Bijniervereniging (NVACP) P 64 U 1144 Rare bone diseases Rare adrenal disease ORPHA:101954 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 2001 Rare endocrine diseases Rare endocrine diseases Rare adrenal disease ORPHA:101954 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1848 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare adrenal disease ORPHA:101954 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 2000 Rare endocrine diseases Rare thyroid disease ORPHA:101955 Schildklier Organisatie NL (SON) P 60 U 1221 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare thyroid disease ORPHA:101955 Schildklier Organisatie NL (SON) P 60 U 1220 Rare bone diseases Polyendocrinopathy ORPHA:101956 Belangenvereniging Von Hippel-Lindau P 66 U 1120 Rare endocrine diseases Rare bone diseases Polyendocrinopathy ORPHA:101956 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 2002 Rare endocrine diseases Rare endocrine diseases Pituitary deficiency ORPHA:101957 NLse Hypofyse ST (NHS) P 65 U 1124 Rare endocrine diseases Pituitary deficiency ORPHA:101957 NLse Hypofyse ST (NHS) P 65 U 1125 Rare endocrine diseases Primary adrenal insufficiency ORPHA:101958 Bijniervereniging (NVACP) P 64 U 1146 Rare neoplastic diseases Rare urogenital diseases Rare immunological diseases Combined T and B cell immunodeficiency ORPHA:101972 ST voor Afweerstoornissen (SAS) P 72 U 1075 Rare genetic diseases Rare immunological diseases Immunodeficiency predominantly affecting antibody production ORPHA:101977 ST voor Afweerstoornissen (SAS) P 72 U 1076 Rare hematologic diseases Quantitative and/or qualitative congenital phagocyte defect ORPHA:101985 Shwachman Syndroom Support Holland (SSSH) P 76 U 1009 Rare immunological diseases Rare hematologic diseases Quantitative and/or qualitative congenital phagocyte defect ORPHA:101985 ST voor Afweerstoornissen (SAS) P 72 U 1077 Rare immunological diseases Rare hematologic diseases Constitutional neutropenia ORPHA:101987 ST Hematon P 81 U 956 Rare hematologic diseases Constitutional neutropenia ORPHA:101987 ST voor Afweerstoornissen (SAS) P 72 U 1977b Rare immunological diseases Immunodeficiency due to a complement cascade protein anomaly ORPHA:101992 ST voor Afweerstoornissen (SAS) P 72 U 1078 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Periodic fever syndromes ORPHA:101995 ST KAISZ P 135 U 387 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare immunological diseases Primary immunodeficiency ORPHA:101997 ST voor Afweerstoornissen (SAS) P 72 U 1083 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Primary immunodeficiency ORPHA:101997 ST voor Afweerstoornissen (SAS) P 72 U 1081 Rare immunological diseases Primary immunodeficiency ORPHA:101997 ST voor Afweerstoornissen (SAS) P 72 U 1084 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare hematologic diseases Primary immunodeficiency ORPHA:101997 ST voor Afweerstoornissen (SAS) P 72 U 1079 Rare immunological diseases Rare immunological diseases Primary immunodeficiency ORPHA:101997 ST voor Afweerstoornissen (SAS) P 72 U 1082 Rare genetic diseases Rare immunological diseases Primary Immunodeficiency ORPHA:101997 ST voor Afweerstoornissen (SAS) P 72 U 1080 Rare neurological diseases Rare epilepsy ORPHA:101998 Epilepsiefonds P 7 U 1791 Rare neurological diseases Rare ataxia ORPHA:102002 ADCA/Ataxie Vereniging NL P 1 U 1838 Rare neurological diseases Rare ataxia ORPHA:102002 ADCA/Ataxie Vereniging NL P 1 U 1837 Rare neurological diseases Neurovascular malformation ORPHA:102006 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1891 Rare circulatory system diseases Rare neurological diseases Neurovascular malformation ORPHA:102006 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1890 Rare neurological diseases Neurovascular malformation ORPHA:102006 Hersenletsel.nl P 91 U 1897 Rare circulatory system diseases Rare neurological diseases Neurovascular malformation ORPHA:102006 Hersenletsel.nl P 91 U 1896 Rare infectious diseases Rickettsial disease ORPHA:102021 Zonder patiëntenorganisatie P nvt U nvt Rare developmental anomalies during Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:102283 Zeldsamen P 290 U 26 embryogenesis Rare developmental anomalies during Multiple congenital anomalies/dysmorphic syndrome-variable intellectual dORPHA:102284 Zeldsamen P 290 U 27 embryogenesis Rare developmental anomalies during Multiple congenital anomalies/dysmorphic syndrome without intellectual dORPHA:102285 EMB NL P 285 U 69 embryogenesis Rare developmental anomalies during Multiple congenital anomalies/dysmorphic syndrome without intellectual dORPHA:102285 ST Complex Care United P 306 U 2 embryogenesis Rare genetic diseases Rare syndromic intellectual disability ORPHA:102369 EMB NL P 285 U 70 Rare neurological diseases Rare genetic diseases Rare syndromic intellectual disability ORPHA:102369 ST Complex Care United P 306 U 5 Rare neurological diseases Rare developmental anomalies during Rare syndromic intellectual disability ORPHA:102369 Zeldsamen P U 29 embryogenesis 290 Rare genetic diseases Rare syndromic intellectual disability ORPHA:102369 Zeldsamen P U 28 Rare neurological diseases 290 Rare developmental anomalies during Arthrogryposis multiplex congenita ORPHA:1037 Handvereniging P 13 U 1774 embryogenesis Rare genetic diseases Rare neurological diseases Rare developmental anomalies during Arthrogryposis multiplex congenita ORPHA:1037 Spierziekten NL P 43 U 1419 embryogenesis Rare genetic diseases Rare neurological diseases Rare hepatic diseases Autoimmune pancreatitis ORPHA:103919 Alvleeskliervereniging (AVKV) P 87 U 888 Rare neurological diseases Leber hereditary optic neuropathy ORPHA:104 Belangenvereniging LOA/LHON P 274 U 84 Rare immunological diseases Rare ophthalmic disorders Rare genetic diseases Leber hereditary optic neuropathy ORPHA:104 Belangenvereniging LOA/LHON P 274 U 83 Rare ophthalmic disorders Rare abdominal surgical diseases Short bowel syndrome ORPHA:104008 Crohn & Colitis NL P 119 U 565 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases Short bowel syndrome ORPHA:104008 Crohn & Colitis NL P 119 U 566 Rare gastroenterologic diseases Rare transplant-related disorders Rare gastroenterologic diseases Short bowel syndrome ORPHA:104008 Crohn & Colitis NL P 119 U 567 Rare gastroenterologic diseases Short bowel Syndrome ORPHA:104008 Crohn & Colitis NL P 119 U 568 Rare abdominal surgical diseases Rare gastroenterologic diseases Rare disease involving intestinal motility ORPHA:104009 Vereniging Ziekte van Hirschsprung P 123 U 503 Rare gastroenterologic diseases Rare disease involving intestinal motility ORPHA:104009 Vereniging Ziekte van Hirschsprung P 123 U 504 Rare genetic diseases Intestinal polyposis syndrome ORPHA:104010 ST Lynch Polyposis P 93 U 748 Rare neoplastic diseases Rare gastroenterologic diseases Intestinal polyposis syndrome ORPHA:104010 ST Lynch Polyposis P 93 U 751 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Intestinal polyposis syndrome ORPHA:104010 ST Lynch Polyposis P 93 U 750 Rare neoplastic diseases Rare gynecologic and obstetric diseases Intestinal polyposis syndrome ORPHA:104010 ST Lynch Polyposis P 93 U 749 Rare neoplastic diseases Rare neoplastic diseases Rare tumor of the intestine ORPHA:104011 ST Darmkanker P 304 U 9 Rare neoplastic diseases Rare tumor of the intestine ORPHA:104011 ST Darmkanker P 304 U 10 Rare gastroenterologic diseases Rare inflammatory bowel disease ORPHA:104012 Crohn & Colitis NL P 119 U 18 Rare gastroenterologic diseases Rare inflammatory bowel disease ORPHA:104012 Crohn & Colitis NL P 119 U 19 Rare neoplastic diseases Adenocarcinoma of the small intestine ORPHA:104075 ST Darmkanker P 304 U 12 Rare gastroenterologic diseases Rare gastroenterologic diseases Myopathic intestinal pseudoobstruction ORPHA:104077 Vereniging Ziekte van Hirschsprung P 123 U 505 Rare gastroenterologic diseases Unclassified intestinal pseudoobstruction ORPHA:104078 Vereniging Ziekte van Hirschsprung P 123 U 506 Rare gynecologic and obstetric diseases Hydrops fetalis ORPHA:1041 Care4Neo P 114 U 601 Rare gynecologic and obstetric diseases Hydrops fetalis ORPHA:1041 OSCAR Nederland P 73 U 1846 Rare hematologic diseases Sideroblastic anemia ORPHA:1047 ST Zeldzame Bloedziekten P 75 U 1012 Rare hematologic diseases Sideroblastic anemia ORPHA:1047 ST Zeldzame Bloedziekten P 75 U 1013 Rare inborn errors of metabolism Rare gastroenterologic diseases Non-syndromic intestinal malformation ORPHA:108967 Maag Lever Darm ST P 105 U 641 Rare abdominal surgical diseases Rare gynecologic and obstetric diseases Non-syndromic central nervous system malformation ORPHA:108989 CP Nederland P 284 U 2035 Rare gynecologic and obstetric diseases Non-syndromic central nervous system malformation ORPHA:108989 EMB NL P 285 U 2036 Rare gynecologic and obstetric diseases Non-syndromic central nervous system malformation ORPHA:108989 SBH NL P 286 U 2039 Rare gynecologic and obstetric diseases Non-syndromic central nervous system malformation ORPHA:108989 Syringomyelie Patiënten Vereniging (SPV) P 177 U 215 Rare gynecologic and obstetric diseases Non-syndromic central nervous system malformation ORPHA:108989 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1297 Rare gynecologic and obstetric diseases Syndrome with a central nervous system malformation as a major feature ORPHA:108991 Care4Neo P 114 U 602 Rare gynecologic and obstetric diseases Syndrome with a central nervous system malformation as a major feature ORPHA:108991 CP Nederland P 284 U 2037 Rare gynecologic and obstetric diseases Syndrome with a central nervous system malformation as a major feature ORPHA:108991 EMB NL P 285 U 2038 Rare gynecologic and obstetric diseases Syndrome with a central nervous system malformation as a major feature ORPHA:108991 SBH NL P 286 U 2040 Rare gynecologic and obstetric diseases Non-syndromic resporatory or mediastinal malformation ORPHA:108993 Care4Neo P 114 U 603 Rare disorders due to toxic effects Rare disorder due to toxic effects ORPHA:108999 ST OPS P 220 U 138 Rare developmental anomalies during Non-syndromic limb malformation ORPHA:109011 Handvereniging P 13 U 1775 embryogenesis Rare bone diseases Rare developmental anomalies during Bardet-Biedl syndrome ORPHA:110 Bardet Biedl syndroom ST P 273 U 87 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare surgical maxillo-facial diseases Aplasia cutis congenita ORPHA:1114 LaPosa P 17 U 1721 Rare cardiac diseases Aortic arch defects ORPHA:1132 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 480 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare developmental anomalies during Beckwith Wiedemann syndrome ORPHA:116 LaPosa P 17 U 1722 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare infectious diseases Aspergillosis ORPHA:1163 Huid NL P 161 U 269 Rare infectious diseases Aspergillosis ORPHA:1163 ST voor Afweerstoornissen (SAS) P 72 U 1085 Rare infectious diseases Allergic bronchopulmonary aspergillosis ORPHA:1164 ST voor Afweerstoornissen (SAS) P 72 U 1086 Rare systemic and rheumatological diseases Behcet disease ORPHA:117 ST KAISZ P 135 U 388

Rare systemic and rheumatological diseases Behcet disease ORPHA:117 Vasculitits ST P 51 U 1380

Rare inborn errors of metabolism Autosomal recessive cerebellar ataxia ORPHA:1172 ADCA/Ataxie Vereniging NL P 1 U 1839 Rare genetic diseases Rare neurological diseases Rare abdominal surgical diseases Rare intestinal disease ORPHA:117569 Crohn & Colitis NL P 119 U 570 Rare gastroenterologic diseases Rare abdominal surgical diseases Rare intestinal disease ORPHA:117569 Crohn & Colitis NL P 119 U 569 Rare gastroenterologic diseases Rare abdominal surgical diseases Rare intestinal disease ORPHA:117569 ST Lynch Polyposis P 93 U 753 Rare gastroenterologic diseases Rare abdominal surgical diseases Rare intestinal disease ORPHA:117569 ST Lynch Polyposis P 93 U 752 Rare gastroenterologic diseases Rare abdominal surgical diseases Rare intestinal disease ORPHA:117569 Vereniging Ziekte van Hirschsprung P 123 U 508 Rare gastroenterologic diseases Rare abdominal surgical diseases Rare intestinal disease ORPHA:117569 Vereniging Ziekte van Hirschsprung P 123 U 507 Rare gastroenterologic diseases Rare abdominal surgical diseases Esophageal atresia ORPHA:1199 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 496 Rare genetic diseases Rare gastroenterologic diseases Esophageal atresia ORPHA:1199 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 497 Rare gastroenterologic diseases Esophageal atresia ORPHA:1199 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 498 Rare abdominal surgical diseases Rare abdominal surgical diseases Atresia of small intestine ORPHA:1201 Maag Lever Darm ST P 105 U 642 Rare gastroenterologic diseases Rare transplant-related disorders Rare surgical maxillo-facial diseases Progressive hemifacial atrophy ORPHA:1214 HEVAS P 131 U 1956 Rare surgical maxillo-facial diseases Progressive hemifacial atrophy ORPHA:1214 LaPosa P 17 U 1723 Rare surgical maxillo-facial diseases Progressive hemifacial atrophy ORPHA:1214 ST Eigen Gezicht P 247 U 105 Rare genetic diseases Birt-Hogg-Dubé syndrome ORPHA:122 Zonder patiëntenorganisatie P nvt U nvt Rare skin diseases Rare gastroenterologic diseases Birt-Hogg-Dubé syndrome ORPHA:122 Zonder patiëntenorganisatie P nvt U nvt Rare genetic diseases Rare neoplastic diseases Rare hematologic diseases Blackfan-Diamond anemia ORPHA:124 ST Zeldzame Bloedziekten - BDA Contactgroep P 75 U 1014 Rare hematologic diseases Blackfan-Diamond anemia ORPHA:124 ST Zeldzame Bloedziekten - BDA Contactgroep P 75 U 1015 Rare hematologic diseases Blackfan-Diamond anemia ORPHA:124 Vereniging Kinderkanker NL P 82 U 906 Rare hematologic diseases Blackfan-Diamond anemia ORPHA:124 Vereniging Kinderkanker NL P 82 U 907 Rare infectious diseases Schistosomiasis ORPHA:1247 Zonder patiëntenorganisatie P nvt U nvt Rare infectious diseases Schistosomiasis ORPHA:1247 Zonder patiëntenorganisatie P nvt U nvt Rare cardiac diseases Brugada syndrome ORPHA:130 Harteraad P 58 U 1242 Rare cardiac diseases Brugada syndrome ORPHA:130 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 481 Rare bone diseases Camurati-Engelmann disease ORPHA:1328 FOP ST NL P 162 U 2048 Rare infectious diseases Chronic mucocutaneous candidiasis ORPHA:1334 Huid NL P 161 U 271 Rare infectious diseases Chronic mucocutaneous candidiasis ORPHA:1334 ST voor Afweerstoornissen (SAS) P 72 U 1087 Rare endocrine diseases Carney complex ORPHA:1359 Bijniervereniging (NVACP) P 64 U 1147 Rare genetic diseases Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencep ORPHA:136 Alzheimer NL P 2 U 1821 Rare neurological diseases Rare inborn errors of metabolism Congenital disorder of glycosylation ORPHA:137 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1298 Rare neurological diseases Neonatal hypoxic and ischemic brain injury ORPHA:137577 Hersenletsel.nl P 91 U 806 Rare gynecologic and obstetric diseases Vulvar intraepithelial neoplasia ORPHA:137583 ST Olijf P 88 U 841 Rare gynecologic and obstetric diseases Vulvar intraepithelial neoplasia ORPHA:137583 ST Olijf P 88 U 842 Rare otorhinolaryngological diseases Choanal atresia ORPHA:137914 Zonder patiëntenorganisatie P nvt U 228 Rare cardiac diseases CHARGE syndrome ORPHA:138 Zeldsamen P 290 U 30 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare developmental anomalies during CHARGE syndrome ORPHA:138 Zeldsamen P 290 U 31 embryogenesis Rare genetic diseases Rare otorhinolaryngological diseases Rare disease with Pierre Robin Syndrome ORPHA:138044 Schisis NL P 287 U 1922 Rare surgical maxillo-facial diseases Rare sucking/swallowing disorders Rare disease with Pierre Robin Syndrome ORPHA:138044 Schisis NL P 287 U 1923 Rare surgical maxillo-facial diseases Rare otorhinolaryngological diseases Rare disease with Pierre Robin Syndrome ORPHA:138044 ST Pierre Robin Europe P 279 U 77 Rare surgical maxillo-facial diseases Rare sucking/swallowing disorders Rare disease with Pierre Robin Syndrome ORPHA:138044 ST Pierre Robin Europe P 279 U 78 Rare surgical maxillo-facial diseases Rare developmental anomalies during Pierre Robin syndrome associated with a chromosomal anomaly ORPHA:138047 ST Pierre Robin Europe P 279 U 79 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare bone diseases Malformation syndrome with short stature ORPHA:139021 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1810 Rare endocrine diseases Rare surgical maxillo-facial diseases Branchial arch or oral-acral syndrome ORPHA:139036 LaPosa P 17 U 1724 Rare developmental anomalies during Isolated craniosynostosis ORPHA:139390 LaPosa P 17 U 1725 embryogenesis Rare surgical maxillo-facial diseases Isolated craniosynostosis ORPHA:139390 LaPosa P 17 U 1726 Rare developmental anomalies during Syndromic craniosynostosis ORPHA:139393 LaPosa P 17 U 1727 embryogenesis Rare surgical maxillo-facial diseases Syndromic craniosynostosis ORPHA:139393 LaPosa P 17 U 1728 Rare developmental anomalies during Joubert syndrome and related disorders ORPHA:140874 EMB NL P 285 U 71 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare infectious diseases Severe acute respiratory syndrome ORPHA:140896 Zonder patiëntenorganisatie P nvt U 521 Rare neoplastic diseases Epignathus ORPHA:141077 Vereniging Kinderkanker NL P 82 U 908 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare otorhinolaryngological diseases Nasolacrimaldyct cyst ORPHA:141083 Zonder patiëntenorganisatie P nvt U 229 Rare otorhinolaryngological diseases Nasal dermoid cyste ORPHA:141103 Zonder patiëntenorganisatie P nvt U 230 Rare neoplastic diseases Nasopharyngeal teratoma ORPHA:141107 Patiëntenvereniging Hoofd-Hals P 169 U 231 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare neoplastic diseases Nasopharyngeal teratoma ORPHA:141107 Vereniging Kinderkanker NL P 82 U 909 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Nasal glial heterotopia ORPHA:141112 LaPosa P 17 U 1729 Nasal glial heterotopia ORPHA:141112 ST Eigen Gezicht P 247 U 106 Rare neoplastic diseases Nasal ganglioglioma ORPHA:141115 P 91 U 807 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Hersenletsel.nl Rare otorhinolaryngological diseases Nasal encephalocele ORPHA:141118 LaPosa P 17 U 1926 Rare otorhinolaryngological diseases Congenital subglottic stenosis ORPHA:141121 Zonder patiëntenorganisatie P nvt U 233 Rare developmental anomalies during Oculo-auriculo-vertebral spectrum ORPHA:141132 LaPosa P 17 U 1730 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Oculo-auriculo-vertebral spectrum ORPHA:141132 LaPosa P 17 U 1731 Rare surgical maxillo-facial diseases Rare developmental anomalies during Hemifacial hyperplasia ORPHA:141145 HEVAS P 131 U 1957 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare developmental anomalies during Hemifacial hyperplasia ORPHA:141145 LaPosa P 17 U 1732 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare developmental anomalies during Hemifacial hyperplasia ORPHA:141145 ST Eigen Gezicht P 247 U 107 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare circulatory system diseases Cerebrofacial arteriovenous metameric syndrome ORPHA:141189 CTMC-OVM P 92 U 777 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Cerebrofacial arteriovenous metameric syndrome ORPHA:141189 HEVAS P 131 U 430 Rare developmental anomalies during embryogenesis Rare otorhinolaryngological diseases Nasal dorsum fistulae ORPHA:141219 Zonder patiëntenorganisatie P nvt U 234 Rare bone diseases Facial cleft ORPHA:141229 LaPosa P 17 U 1733 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare surgical maxillo-facial diseases Facial cleft ORPHA:141229 LaPosa P 17 U 1734 Rare inborn errors of metabolism Paroxysmal dyskinesia ORPHA:1431 Dystonie Vereniging P 59 U 1226 Rare genetic diseases Rare neurological diseases Rare genetic diseases Lynch syndrome ORPHA:144 ST Lynch Polyposis P 93 U 755 Rare neoplastic diseases Rare genetic diseases Lynch syndrome ORPHA:144 ST Lynch Polyposis P 93 U 756 Rare gastroenterologic diseases Rare gastroenterologic diseases Lynch syndrome ORPHA:144 ST Lynch Polyposis P 93 U 759 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Lynch syndrome ORPHA:144 ST Lynch Polyposis P 93 U 754 Rare neoplastic diseases Rare genetic diseases Lynch syndrome ORPHA:144 ST Lynch Polyposis P 93 U 757 Rare neoplastic diseases Rare genetic diseases Lynch syndrome ORPHA:144 ST Lynch Polyposis P 93 U 758 Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 827 Rare neoplastic diseases Rare neoplastic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 825 Rare genetic diseases Rare gastroenterologic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 830 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 831 Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 829 Rare neoplastic diseases Rare gynecologic and obstetric diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 828 Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 Borstkankervereniging NL (BVN) P 89 U 826 Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 845 Rare neoplastic diseases Rare neoplastic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 843 Rare genetic diseases Rare gastroenterologic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 848 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 849 Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 847 Rare neoplastic diseases Rare gynecologic and obstetric diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 846 Rare neoplastic diseases Rare genetic diseases Hereditary breast and ovarian cancer syndrome ORPHA:145 ST Olijf P 88 U 844 Rare neoplastic diseases Rare bone diseases Cleidocranial dysplasia ORPHA:1452 LaPosa P 17 U 1735 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare surgical maxillo-facial diseases Cleidocranial dysplasia ORPHA:1452 LaPosa P 17 U 1736 Rare bone diseases Cleidocranial dysplasia ORPHA:1452 ST Eigen Gezicht P 247 U 1929 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare surgical maxillo-facial diseases Cleidocranial dysplasia ORPHA:1452 ST Eigen Gezicht P 247 U 1930 Rare neoplastic diseases Nasopharyngeal carcinoma ORPHA:150 Patiëntenvereniging Hoofd-Hals P 169 U 235 Rare neoplastic diseases Nasopharyngeal carcinoma ORPHA:150 Patiëntenvereniging Hoofd-Hals P 169 U 236 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Adrenocortical carcinoma ORPHA:1501 Bijniervereniging (NVACP) P 64 U 1149 Rare endocrine diseases Adrenocortical carcinoma ORPHA:1501 Bijniervereniging (NVACP) P 64 U 1148 Rare neoplastic diseases Rare urogenital diseases Rare endocrine diseases Adrenocortical carcinoma ORPHA:1501 Bijniervereniging (NVACP) P 64 U 1150 Rare bone diseases Craniosynostosis ORPHA:1531 LaPosa P 17 U 1737 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Cysts and fistulae of the face and oral cavity ORPHA:155835 LaPosa P 17 U 1738 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare developmental anomalies during Cysts and fistulae of the face and oral cavity ORPHA:155835 ST Eigen Gezicht P 247 U 108 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare bone diseases Otomandibular dysplasia ORPHA:155896 LaPosa P 17 U 1740 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare otorhinolaryngological diseases Otomandibular dysplasia ORPHA:155896 LaPosa P 17 U 1739 Rare surgical maxillo-facial diseases Rare otorhinolaryngological diseases Otomandibular dysplasia ORPHA:155896 ST Eigen Gezicht P 247 U 109 Rare surgical maxillo-facial diseases Rare systemic and rheumatological diseases Predominantly large-vessel vasculitis ORPHA:156140 Vasculitits ST P 51 U 1381 Rare immunological diseases Rare systemic and rheumatological diseases Predominantly medium-vessel vasculitis ORPHA:156143 Vasculitits ST P 51 U 1382 Rare immunological diseases

Rare systemic and rheumatological diseases Predominantly small-vessel vasculitis ORPHA:156146 Vasculitits ST P 51 U 1383 Rare immunological diseases

Rare systemic and rheumatological diseases Anti-neutrophil cytoplasmic antibody-associated vasculitis ORPHA:156152 Vasculitits ST P 51 U 1384 Rare immunological diseases

Rare bone diseases Macroglossia ORPHA:156207 LaPosa P 17 U 1741 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare bone diseases Macroglossia ORPHA:156207 Schisis NL P 287 U 1927 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare bone diseases Hypoglossia/aglossia ORPHA:156212 LaPosa P 17 U 1742 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare bone diseases Hypoglossia/aglossia ORPHA:156212 Schisis NL P 287 U 1928 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare bone diseases Hypoglossia/aglossia ORPHA:156212 ST Eigen Gezicht P 247 U 110 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare bone diseases Paralytic facial malformation ORPHA:156224 LaPosa P 17 U 1743 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare surgical maxillo-facial diseases Paralytic facial malformation ORPHA:156224 LaPosa P 17 U 1744 Rare bone diseases Paralytic facial malformation ORPHA:156224 ST Eigen Gezicht P 247 U 111 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare surgical maxillo-facial diseases Paralytic facial malformation ORPHA:156224 ST Eigen Gezicht P 247 U 112 Rare circulatory system diseases Facial arteriovenous malformation ORPHA:156230 CTMC-OVM P 92 U 778 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Facial arteriovenous malformation ORPHA:156230 HEVAS P 131 U 431 Rare developmental anomalies during embryogenesis Rare bone diseases Syndrome or malformation associated with head and neck malformations ORPHA:156237 LaPosa P 17 U 1745 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare otorhinolaryngological diseases Syndrome or malformation associated with head and neck malformations ORPHA:156237 LaPosa P 17 U 1746 Rare surgical maxillo-facial diseases Rare bone diseases Syndrome or malformation associated with head and neck malformations ORPHA:156237 ST Eigen Gezicht P 247 U 113 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare otorhinolaryngological diseases Syndrome or malformation associated with head and neck malformations ORPHA:156237 ST Eigen Gezicht P 247 U 114 Rare surgical maxillo-facial diseases Rare otorhinolaryngological diseases Pinnae and external audictory canal anomaly ORPHA:156243 ST Hoormij P 33 U 1524 Rare otorhinolaryngological diseases Nose & Cavum anomaly ORPHA:156246 Zonder patiëntenorganisatie P nvt U 237 Rare otorhinolaryngological diseases Larynx anomaly ORPHA:156249 Zonder patiëntenorganisatie P nvt U 240 Rare developmental anomalies during Larynx anomaly ORPHA:156249 Zonder patiëntenorganisatie P nvt U 238 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Larynx anomaly ORPHA:156249 Zonder patiëntenorganisatie P nvt U 239 Rare otorhinolaryngological diseases Tracheal anomaly ORPHA:156252 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 2055 Rare developmental anomalies during Tracheal anomaly ORPHA:156252 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 499 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Tracheal anomaly ORPHA:156252 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 2056 Rare cardiac diseases Rare syndrome with cardiac malformations ORPHA:156532 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 482 Rare cardiac malformations Rare circulatory system diseases Rare surgical thoracic diseases Rare allergic disease Rare genetic respiratory disease ORPHA:156610 NLse Cystic Fibrosis ST (NCFS) P 159 U 304 Rare respiratory diseases Rare allergic disease Rare genetic respiratory disease ORPHA:156610 ST LAM NL P 160 U 298 Rare respiratory diseases Rare immunological diseases Common variable immunodeficiency ORPHA:1572 ST voor Afweerstoornissen (SAS) P 72 U 1088 Rare genetic diseases Hereditary mixed polyposis syndrome ORPHA:157794 ST Lynch Polyposis P 93 U 760 Rare neoplastic diseases Rare gastroenterologic diseases Serrated polyposis syndrome ORPHA:157798 ST Lynch Polyposis P 93 U 762 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Serrated polyposis syndrome ORPHA:157798 ST Lynch Polyposis P 93 U 761 Rare neoplastic diseases Rare neurological diseases Paroxysmal Hemicrania ORPHA:157835 Hoofdpijnnet P 32 U 1549 Rare neurological diseases Trigeminal autonomic cephalgia ORPHA:157843 Hoofdpijnnet P 32 U 1550 Rare inborn errors of metabolism Pantothenate kinase-associated neurodegeneration ORPHA:157850 Alzheimer NL P 2 U 1822 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Pantothenate kinase-associated neurodegeneration ORPHA:157850 Kans voor PKAN-kinderen P 289 U 50 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Pantothenate kinase-associated neurodegeneration ORPHA:157850 ST Ijzersterk P 189 U 211 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Pantothenate kinase-associated neurodegeneration ORPHA:157850 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1299 Rare genetic diseases Rare neurological diseases Rare systemic and rheumatological diseases Non-Langerhans cell histiocytosis ORPHA:157987 ST Celhistiose NL P 46 U 1413

Rare immunological diseases Necrobiotic xanthogranuloma ORPHA:158011 Huid NL P 161 U 272 Rare systemic and rheumatological diseases Hemophagocytic syndrome ORPHA:158032 ST Celhistiose NL P 46 U 1415

Rare immunological diseases Hemophagocytic syndrome ORPHA:158032 ST Celhistiose NL P 46 U 1414 Rare genetic diseases Rare systemic and rheumatological diseases Hemophagocytic syndrome ORPHA:158032 ST Zeldzame Bloedziekten P 75 U 1017

Rare immunological diseases Hemophagocytic syndrome ORPHA:158032 ST Zeldzame Bloedziekten P 75 U 1016 Rare genetic diseases Rare otorhinolaryngological diseases Isolated congenital nasal pyriform aperture stenosis ORPHA:162516 Zonder patiëntenorganisatie P nvt U 243 Rare hematologic diseases Hereditary hyperferritinemia-cataract syndrome ORPHA:163 Oogvereniging P 100 U 669 Rare inborn errors of metabolism Rare infectious diseases Rare parasitic disease ORPHA:163588 Zonder patiëntenorganisatie P nvt U nvt Rare infectious diseases Rare parasitic disease ORPHA:163588 Zonder patiëntenorganisatie P nvt U nvt Rare infectious diseases Rare mycosis ORPHA:163591 Huid NL P 161 U 273 Rare infectious diseases Rare mycosis ORPHA:163591 ST voor Afweerstoornissen (SAS) P 72 U 1089 Rare circulatory system diseases Rare disorder related with pregnancy, childbirth and puerperium ORPHA:163637 Care4Neo P 114 U 604 Rare gynecologic and obstetric diseases Rare gynecologic and obstetric diseases Rare disorder related with pregnancy, childbirth and puerperium ORPHA:163637 Care4Neo P 114 U 605 Rare circulatory system diseases Rare disorder related with pregnancy, childbirth and puerperium ORPHA:163637 Hellp ST P 113 U 2044 Rare gynecologic and obstetric diseases Rare gynecologic and obstetric diseases Rare disorder related with pregnancy, childbirth and puerperium ORPHA:163637 Hellp ST P 113 U 2042 Rare neurological diseases Limbic encephalitis ORPHA:163892 Nlse Meningitis Stichting P 118 U 1898 Rare bone diseases Rare odontal or periodontal disorder ORPHA:164001 LaPosa P 17 U 1747 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Rare odontal or periodontal disorder ORPHA:164001 LaPosa P 17 U 1748 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare bone diseases Rare odontal or periodontal disorder ORPHA:164001 Schisis NL P 287 U 52 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Rare odontal or periodontal disorder ORPHA:164001 Schisis NL P 287 U 53 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare bone diseases Rare odontal or periodontal disorder ORPHA:164001 ST Eigen Gezicht P 247 U 115 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Rare odontal or periodontal disorder ORPHA:164001 ST Eigen Gezicht P 247 U 116 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Middle ear anomaly ORPHA:164004 ST Hoormij P 33 U 1527 Rare developmental anomalies during Middle ear anomaly ORPHA:164004 ST Hoormij P 33 U 1525 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare developmental anomalies during Middle ear anomaly ORPHA:164004 ST Hoormij P 33 U 1526 embryogenesis Rare otorhinolaryngological diseases Rare hematologic diseases Rare acquired aplastic anemia ORPHA:164823 ST AA & PNH P 104 U 657 Rare hematologic diseases Rare acquired aplastic anemia ORPHA:164823 ST AA & PNH P 104 U 658 Rare renal diseases Non-syndromic urogenital tract malformation ORPHA:165704 ST MRK Vrouwen P 112 U 623 Rare urogenital diseases Rare neurological diseases Hereditary motor and sensory neuropathy ORPHA:166 Spierziekten NL P 43 U 1420 Rare neurological diseases Epilepsy syndrome ORPHA:166463 Epilepsiefonds P 7 U 1792 Rare neurological diseases Monogenic disease with epilepsy ORPHA:166472 Epilepsiefonds P 7 U 1794 Rare neurological diseases Monogenic disease with epilepsy ORPHA:166472 Epilepsiefonds P 7 U 1793 Rare neurological diseases Cerebral malformation with epilepsy ORPHA:166478 Epilepsiefonds P 7 U 1795 Rare neurological diseases Cerebral malformation with epilepsy ORPHA:166478 Epilepsiefonds P 7 U 1796 Rare neurological diseases Inflammatory and autoimmune disease with epilepsy ORPHA:166484 Epilepsiefonds P 7 U 1797 Rare genetic diseases Rare hemorrhagic disorder due to an acquired coagulation factor defect ORPHA:166775 Zonder patiëntenorganisatie P nvt U 1106 Rare hematologic diseases Rare cardiac diseases Rare cardiomyopathy ORPHA:167848 Harteraad P 58 U 1245 Rare cardiac diseases Rare cardiomyopathy ORPHA:167848 Harteraad P 58 U 1244 Rare cardiac diseases Rare cardiomyopathy ORPHA:167848 Harteraad P 58 U 1248 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Rare cardiomyopathy ORPHA:167848 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 2015 Rare cardiac malformations Rare circulatory system diseases Rare surgical thoracic diseases Rare cardiac diseases Rare cardiomyopathy ORPHA:167848 Patiëntenvereniging Aangeboren Hartafwijkingen? P 127 U 2016 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare genetic diseases Rare pervasive developmental disorder ORPHA:168778 NLse Vereniging voor Autisme P 26 U 1646 Rare neurological diseases Rare neoplastic diseases Primary peritoneal tumor ORPHA:168803 Zonder patiëntenorganisatie P nvt U 1170 Rare neoplastic diseases Malignant peritoneal mesothelioma ORPHA:168811 Asbestslachtoffers Vereniging NL (AVN) P 109 U 633 Rare respiratory diseases Rare neoplastic diseases Malignant melanoma of the mucosa ORPHA:168999 ST Melanoom P 96 U 701 Rare neurological diseases Rare neoplastic diseases Malignant melanoma of the mucosa ORPHA:168999 ST Melanoom P 96 U 702 Rare hepatic diseases Primary sclerosing cholangitis ORPHA:171 NLse Leverpatiënten Vereniging (NLV) P 19 U 1659 Rare hepatic diseases Primary sclerosing cholangitis ORPHA:171 NLse Leverpatiënten Vereniging (NLV) P 19 U 1658 Rare hepatic diseases Primary sclerosing cholangitis ORPHA:171 NLse Leverpatiënten Vereniging (NLV) P 19 U 1657 Rare neurological diseases Periventricular leukomalacia ORPHA:171676 Zonder patiëntenorganisatie P nvt U 146 Rare otorhinolaryngological diseases Idiopathic Bilateral Vestibulopathy ORPHA:171684 ST Hoormij P 33 U 1528 Rare hematologic diseases Myeloid hemopathy ORPHA:171895 ST Hematon P 81 U 957 Rare neoplastic diseases Rare hematologic diseases Myeloid hemopathy ORPHA:171895 ST Hematon P 81 U 958 Rare neoplastic diseases Rare hematologic diseases B-cell non-Hodgkin lymphoma ORPHA:171915 ST Hematon P 81 U 959 Rare transplant-related disorders Rare gastroenterologic diseases Progressive familial intrahepatic cholestasis ORPHA:172 NLse Leverpatiënten Vereniging (NLV) P 19 U 1660 Rare genetic diseases Rare hepatic diseases Progressive familial intrahepatic cholestasis ORPHA:172 NLse Leverpatiënten Vereniging (NLV) P 19 U 1661 Rare hematologic diseases Dyskeratosis congenita ORPHA:1775 ST Hematon P 81 U 960 Rare hematologic diseases Dyskeratosis congenita ORPHA:1775 ST Hematon P 81 U 961 Rare neoplastic diseases Chordoma ORPHA:178 ST Patiëntenplatform Sarcomen P 94 U 714 Rare otorhinolaryngological diseases Rare neoplastic diseases Chordoma ORPHA:178 ST Patiëntenplatform Sarcomen P 94 U 713 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare bone diseases Chordoma ORPHA:178 ST Patiëntenplatform Sarcomen P 94 U 715 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare endocrine diseases Central diabetes insipidus ORPHA:178029 NLse Hypofyse ST (NHS) P 65 U 1126 Rare bone diseases Isolated Sternocostoclavicular Hyperostosis ORPHA:178311 NLse vereniging van patiënten met sternocosto claviculaire hyperostocis (SCCH) P 42 U 1504 Rare endocrine diseases Rare immunological diseases Primary immunodeficiency due to a defect in adaptive immunity ORPHA:179006 ST voor Afweerstoornissen (SAS) P 72 U 1091 Rare immunological diseases Primary immunodeficiency due to a defect in adaptive immunity ORPHA:179006 ST voor Afweerstoornissen (SAS) P 72 U 1090 Rare genetic diseases Rare renal diseases Absence of uterine body ORPHA:180142 Zonder patiëntenorganisatie P nvt U 626 Rare urogenital diseases Rare gynecologic and obstetric diseases Rare uterine adnexal tumor ORPHA:180220 ST Olijf P 88 U 850 Rare neoplastic diseases Rare gynecologic and obstetric diseases Malignant tumor of fallopian tubes ORPHA:180242 ST Olijf P 88 U 851 Rare neoplastic diseases Rare neoplastic diseases Rare malignant breast tumor ORPHA:180257 Borstkankervereniging NL (BVN) P 89 U 832 Rare genetic diseases Rare gynecologic and obstetric diseases Rare vulvovaginal tumor ORPHA:180312 ST Olijf P 88 U 852 Rare gynecologic and obstetric diseases Rare vulvovaginal tumor ORPHA:180312 ST Olijf P 88 U 853 Rare neoplastic diseases Rare gastroenterologic diseases Rare gastroesophageal tumor ORPHA:180821 SPKS - Leven met maag- of slokdarmkanker P 63 U 1172 Rare neoplastic diseases Rare gastroenterologic diseases Rare gastroesophageal tumor ORPHA:180821 SPKS - Leven met maag- of slokdarmkanker P 63 U 1171 Rare neoplastic diseases Rare gastroesophageal tumor ORPHA:180821 SPKS - Leven met maag- of slokdarmkanker P 63 U 1173 Rare neoplastic diseases Rare tumor of pancreas ORPHA:180824 Alvleeskliervereniging (AVKV) P 87 U 890 Rare gastroenterologic diseases Rare gastroenterologic diseases Rare tumor of pancreas ORPHA:180824 Alvleeskliervereniging (AVKV) P 87 U 889 Rare neoplastic diseases Rare neoplastic diseases Rare tumor of pancreas ORPHA:180824 Alvleeskliervereniging (AVKV) P 87 U 891 Rare neoplastic diseases Rare tumor of pancreas ORPHA:180824 Living with Hope P 260 U 2026 Rare gastroenterologic diseases Rare gastroenterologic diseases Rare tumor of pancreas ORPHA:180824 Living with Hope P 260 U 2028 Rare neoplastic diseases Rare neoplastic diseases Rare tumor of pancreas ORPHA:180824 Living with Hope P 260 U 2027 Rare endocrine diseases Rare hypothalamic or pituitary disease ORPHA:181384 NLse Hypofyse ST (NHS) P 65 U 1129 Rare endocrine diseases Rare hypothalamic or pituitary disease ORPHA:181384 NLse Hypofyse ST (NHS) P 65 U 1130 Rare bone diseases Rare hypothalamic or pituitary disease ORPHA:181384 NLse Hypofyse ST (NHS) P 65 U 1127 Rare endocrine diseases Rare endocrine diseases Rare hypothalamic or pituitary disease ORPHA:181384 NLse Hypofyse ST (NHS) P 65 U 1131 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare hypothalamic or pituitary disease ORPHA:181384 NLse Hypofyse ST (NHS) P 65 U 1128 Rare endocrine diseases Growth hormone insensitivity syndrome ORPHA:181393 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1811 Rare endocrine diseases Growth hormone insensitivity syndrome ORPHA:181393 Nlse Hypofyse ST (NHS) iom NVGG P 65 U 2047 Rare endocrine diseases Growth hormone insensitivity syndrome ORPHA:181393 NVGG - Nlse vereniging voor groeihoormoondeficiëntie en groeihormoonbehandeling P 194 U 208 Rare endocrine diseases Rare hyperparathyroidism ORPHA:181408 Zonder patiëntenorganisatie P nvt U 1222 Rare neoplastic diseases Rare endocrine diseases Adrenogenital syndrome ORPHA:181412 Bijniervereniging (NVACP) P 64 U 1151 Rare neoplastic diseases Rare urogenital diseases Rare endocrine diseases Rare primary hyperaldosteronism ORPHA:181415 Bijniervereniging (NVACP) P 64 U 1153 Rare neoplastic diseases Rare urogenital diseases Rare endocrine diseases Rare primary hyperaldosteronism ORPHA:181415 Bijniervereniging (NVACP) P 64 U 1152 Rare endocrine diseases Rare hyperlipidemia ORPHA:181422 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1300 Rare hematologic diseases Aplastic Anemia ORPHA:182040 ST AA & PNH P 104 U 659 Rare hematologic diseases Rare thrombotic disease of hematologic origin ORPHA:182054 ST Zeldzame Bloedziekten - TTP Contactgroep P 75 U 1029 Rare neurological diseases Rare neuroinflammatory or neuroimmunological disease ORPHA:182064 MS Vereniging NL P 21 U 1971 Rare neurological diseases Rare neuroinflammatory or neuroimmunological disease ORPHA:182064 Oogvereniging P 100 U 1972 Rare neurological diseases Rare neuroinflammatory or neuroimmunological disease ORPHA:182064 Spierziekten NL P 43 U 1899 Rare neoplastic diseases Glial tumor ORPHA:182067 P 91 U 809 Rare neurological diseases Hersenletsel.nl Rare neoplastic diseases Glial tumor ORPHA:182067 P 91 U 808 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Hersenletsel.nl Rare neurological diseases Glial Tumor ORPHA:182067 Hersenletsel.nl P 91 U 810 Rare neoplastic diseases Glial tumor ORPHA:182067 Vereniging Kinderkanker NL P 82 U 911 Rare neurological diseases Rare neoplastic diseases Glial tumor ORPHA:182067 Vereniging Kinderkanker NL P 82 U 910 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare neurological diseases Glial Tumor ORPHA:182067 Vereniging Kinderkanker NL P 82 U 912 Rare neurological diseases Acquired peripheral neuropathy ORPHA:182086 Spierziekten NL P 43 U 1422 Rare neurological diseases Acquired peripheral neuropathy ORPHA:182086 Spierziekten NL P 43 U 1421 Rare respiratory diseases Pulmonary Arterial Hypertension ORPHA:182090 ST Pulmonale Hypertensie P 158 U 315 Rare respiratory diseases Interstitial lung disease ORPHA:182095 Belangenvereniging Longfibrosepatiënten NL P 152 U 337 Rare allergic disease Interstitial lung disease ORPHA:182095 Belangenvereniging Longfibrosepatiënten NL P 152 U 336 Rare respiratory diseases Rare respiratory diseases Interstitial lung disease ORPHA:182095 Belangenvereniging Longfibrosepatiënten NL P 152 U 338 Rare respiratory diseases Interstitial lung disease ORPHA:182095 Belangenvereniging Longfibrosepatiënten NL P 152 U 339 Rare respiratory diseases Interstitial lung disease ORPHA:182095 LGD Alliance NL P 200 U 197 Rare allergic disease Interstitial lung disease ORPHA:182095 LGD Alliance NL P 200 U 196 Rare respiratory diseases Rare respiratory diseases Interstitial lung disease ORPHA:182095 LGD Alliance NL P 200 U 198 Rare respiratory diseases Interstitial lung disease ORPHA:182095 LGD Alliance NL P 200 U 199 Rare respiratory diseases Interstitial lung disease ORPHA:182095 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1960 Rare allergic disease Interstitial lung disease ORPHA:182095 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1959 Rare respiratory diseases Rare respiratory diseases Interstitial lung disease ORPHA:182095 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1961 Rare respiratory diseases Interstitial lung disease ORPHA:182095 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1962 Rare respiratory diseases Interstitial lung disease ORPHA:182095 Sarcoïdose NL P 40 U 1506 Rare allergic disease Interstitial lung disease ORPHA:182095 Sarcoïdose NL P 40 U 1505 Rare respiratory diseases Rare respiratory diseases Interstitial lung disease ORPHA:182095 Sarcoïdose NL P 40 U 1507 Rare respiratory diseases Interstitial lung disease ORPHA:182095 Sarcoïdose NL P 40 U 1508 Rare respiratory diseases Interstitial lung disease ORPHA:182095 ST LAM NL P 160 U 300 Rare allergic disease Interstitial lung disease ORPHA:182095 ST LAM NL P 160 U 299 Rare respiratory diseases Rare respiratory diseases Interstitial lung disease ORPHA:182095 ST LAM NL P 160 U 301 Rare respiratory diseases Interstitial lung disease ORPHA:182095 ST LAM NL P 160 U 302 Rare allergic disease Respiratory malformation ORPHA:182111 Zonder patiëntenorganisatie P nvt U 523 Rare respiratory diseases Rare developmental anomalies during Non-syndromic urogenital tract malformation of male and female ORPHA:182124 Nierpatiënten Vereniging NL (NVN) P 31 U 1561 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare endocrine diseases Tumor of endocrine glands ORPHA:182130 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1849 Rare endocrine diseases Tumor of endocrine glands ORPHA:182130 ST NET-Groep P 62 U 1202 Rare renal diseases Systemic autoimmune disease ORPHA:182228 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 459 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare systemic and rheumatological diseases Systemic autoimmune disease ORPHA:182228 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 460 Rare immunological diseases

Rare renal diseases Systemic autoimmune disease ORPHA:182228 Vasculitits ST P 51 U 1385 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare systemic and rheumatological diseases Systemic autoimmune disease ORPHA:182228 Vasculitits ST P 51 U 1386 Rare immunological diseases

Rare systemic and rheumatological diseases Eosinophilic granulomatosis and polyangiitis ORPHA:183 Vasculitits ST P 51 U 1387 Rare immunological diseases

Rare genetic diseases Polymalformative genetic syndrome with increased risk of developing canceORPHA:183422 Neurofibromatosevereniging NL (NFVN) P 30 U 1620 Rare neurological diseases Rare genetic diseases Polymalformative genetic syndrome with increased risk of developing canceORPHA:183422 Vereniging Kinderkanker NL P 82 U 913 Rare neurological diseases Rare developmental anomalies during Inherited ichthyosis ORPHA:183435 Vereniging voor Ichthyosisnetwerken P 237 U 124 embryogenesis Rare genetic diseases Rare skin diseases Rare developmental anomalies during Genetic epidermal appendage anomaly ORPHA:183447 Huid NL P 161 U 274 embryogenesis Rare genetic diseases Rare skin diseases Rare developmental anomalies during Genetic pigmentation anomaly of the skin ORPHA:183463 Neurofibromatosevereniging NL (NFVN) P 30 U 1621 embryogenesis Rare genetic diseases Rare skin diseases Rare developmental anomalies during Genetic dermis disorder ORPHA:183472 Huid NL P 161 U 275 embryogenesis Rare genetic diseases Rare skin diseases Rare developmental anomalies during Genetic photodermatosis ORPHA:183490 EPP - Erytropoëtische Protoporfyrie Vereniging P 101 U 668 embryogenesis Rare genetic diseases Rare skin diseases Rare neurological diseases Genetic Neurodegenerative Diseases ORPHA:183500 Spierziekten NL P 43 U 1423 Rare neurological diseases Rare Genetic Headache ORPHA:183509 Hoofdpijnnet P 32 U 1551 Rare immunological diseases Severe combined immunodeficiency ORPHA:183660 ST voor Afweerstoornissen (SAS) P 72 U 1092 Rare genetic diseases Rare hepatic diseases Primary biliary cholangitis ORPHA:186 NLse Leverpatiënten Vereniging (NLV) P 19 U 1663 Rare hepatic diseases Primary Biliary Cholangitis ORPHA:186 NLse Leverpatiënten Vereniging (NLV) P 19 U 1662 Rare inborn errors of metabolism Focal, segmental or multifocal dystonia ORPHA:1866 Dystonie Vereniging P 59 U 1227 Rare genetic diseases Rare neurological diseases Rare genetic diseases Cockayne Syndrome ORPHA:191 ST Amy and Friends P 319 U 2004 Rare neurological diseases Rare genetic diseases Cockayne Syndrome ORPHA:191 ST Hoormij P 33 U 1529 Rare neurological diseases Rare genetic diseases Cockayne Syndrome ORPHA:191 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1301 Rare neurological diseases Rare respiratory diseases Congenital lobar emphysema ORPHA:1928 Zonder patiëntenorganisatie P nvt U 524 Rare surgical thoracic diseases Rare skin diseases Congenital lethal erythroderma ORPHA:1954 Huid NL P 161 U 276 Rare neoplastic diseases Esthesioneuroblastoma ORPHA:1957 P 91 U 812 Rare neurological diseases Hersenletsel.nl Rare neoplastic diseases Esthesioneuroblastoma ORPHA:1957 P 91 U 811 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Hersenletsel.nl Rare developmental anomalies during Cornelia de Lange syndrome ORPHA:199 Vereniging Cornelia de Lange Syndroom P 144 U 365 embryogenesis Rare bone diseases Cleft lip with or without cleft palate ORPHA:1991 Schisis NL P 287 U 54 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Cleft lip with or without cleft palate ORPHA:1991 Schisis NL P 287 U 55 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Cleft lip with or without cleft palate ORPHA:1991 Schisis NL P 287 U 56 Rare surgical maxillo-facial diseases Rare sucking/swallowing disorders Cleft lip with or without cleft palate ORPHA:1991 Schisis NL P 287 U 57 Rare surgical maxillo-facial diseases Rare genetic diseases Endophthalmitis ORPHA:199323 Oogvereniging P 100 U 670 Rare ophthalmic disorders Rare genetic diseases Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephORPHA:199354 Alzheimer NL P 2 U 1823 Rare neurological diseases Rare bone diseases Cleft palate ORPHA:2014 Schisis NL P 287 U 58 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Cleft palate ORPHA:2014 Schisis NL P 287 U 59 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Cleft palate ORPHA:2014 Schisis NL P 287 U 60 Rare surgical maxillo-facial diseases Rare sucking/swallowing disorders Cleft palate ORPHA:2014 Schisis NL P 287 U 61 Rare surgical maxillo-facial diseases Rare respiratory diseases Idiopathic pulmonary fibrosis ORPHA:2032 Belangenvereniging Longfibrosepatiënten NL P 152 U 340 Rare respiratory diseases Idiopathic pulmonary fibrosis ORPHA:2032 Belangenvereniging Longfibrosepatiënten NL P 152 U 341 Rare inborn errors of metabolism Crigler-Najjar syndrome ORPHA:205 Crigler-Najjar ST P 176 U 222 Rare hepatic diseases Crigler-Najjar syndrome ORPHA:205 Crigler-Najjar ST P 176 U 221 Rare inborn errors of metabolism Crigler-Najjar syndrome ORPHA:205 NLse Leverpatiënten Vereniging (NLV) P 19 U 1665 Rare hepatic diseases Crigler-Najjar syndrome ORPHA:205 NLse Leverpatiënten Vereniging (NLV) P 19 U 1664 Rare inborn errors of metabolism Essential fructosuria ORPHA:2056 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1302 Rare gynecologic and obstetric diseases Borderline epithelial tumor of ovary ORPHA:206473 ST Olijf P 88 U 854 Rare neurological diseases Genetic skeletal muscle disease ORPHA:206634 Spierziekten NL P 43 U 1424 Rare neurological diseases Acquired skeletal muscle disease ORPHA:206638 Spierziekten NL P 43 U 1425 Rare neurological diseases Progressive muscular dystrophy ORPHA:206644 Spierziekten NL P 43 U 1426 Rare neurological diseases Myotonic dystrophy ORPHA:206647 Spierziekten NL P 43 U 1428 Rare neurological diseases Myotonic dystrophy ORPHA:206647 Spierziekten NL P 43 U 1427 Rare neurological diseases Non-dystrophic myopathy ORPHA:206656 Spierziekten NL P 43 U 1429 Rare neurological diseases Bulbospinal muscular atrophy ORPHA:206701 Spierziekten NL P 43 U 1430 Rare respiratory diseases Narcolepsy type 1 ORPHA:2073 Narcolepsie Vereniging NL (NVN) P 210 U 172 Rare neurological diseases Narcolepsy type 1 ORPHA:2073 Narcolepsie Vereniging NL (NVN) P 210 U 171 Rare neurological diseases Chronic polyradiculoneuropathy ORPHA:208978 Spierziekten NL P 43 U 1431 Rare neurological diseases Peripheral neuropathy associated with monoclonal gammopathy ORPHA:209010 Spierziekten NL P 43 U 1433 Rare neurological diseases Peripheral neuropathy associated with monoclonal gammopathy ORPHA:209010 Spierziekten NL P 43 U 1432 Rare abdominal surgical diseases Solitary rectal ulcer syndrome ORPHA:209964 Vereniging Anusatresie P 120 U 1917 Rare gastroenterologic diseases Rare respiratory diseases Congenital alveolar capillary dysplasia ORPHA:210122 Zonder patiëntenorganisatie P nvt U 525 Rare respiratory diseases Congenital alveolar capillary dysplasia ORPHA:210122 Zonder patiëntenorganisatie P nvt U 526 Rare surgical thoracic diseases Rare hepatic diseases Adult hepatocellular carcinoma ORPHA:210159 NLse Leverpatiënten Vereniging (NLV) P 19 U 1666 Rare neurological diseases Guillain-Barré syndrome ORPHA:2103 Spierziekten NL P 43 U 1434 Rare bone diseases Temporomandibular joint anomaly ORPHA:210581 LaPosa P 17 U 1749 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare surgical maxillo-facial diseases Temporomandibular joint anomaly ORPHA:210581 LaPosa P 17 U 1750 Rare circulatory system diseases Rare vascular tumor ORPHA:211237 CTMC-OVM P 92 U 780 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare vascular tumor ORPHA:211237 CTMC-OVM P 92 U 779 Rare circulatory system diseases Rare vascular tumor ORPHA:211237 HEVAS P 131 U 433 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare vascular tumor ORPHA:211237 HEVAS P 131 U 432 Rare circulatory system diseases Rare vascular tumor ORPHA:211237 LGD Alliance NL P 200 U 201 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare vascular tumor ORPHA:211237 LGD Alliance NL P 200 U 200 Rare circulatory system diseases Simple vascular malformation ORPHA:211243 CTMC-OVM P 92 U 781 Rare circulatory system diseases Simple vascular malformation ORPHA:211243 HEVAS P 131 U 434 Rare circulatory system diseases Rare capillary malformation ORPHA:211247 CTMC-OVM P 92 U 784 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare capillary malformation ORPHA:211247 CTMC-OVM P 92 U 782 Rare circulatory system diseases Rare capillary malformation ORPHA:211247 CTMC-OVM P 92 U 783 Rare circulatory system diseases Rare capillary malformation ORPHA:211247 HEVAS P 131 U 437 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare capillary malformation ORPHA:211247 HEVAS P 131 U 435 Rare circulatory system diseases Rare capillary malformation ORPHA:211247 HEVAS P 131 U 436 Rare circulatory system diseases Rare venous malformation ORPHA:211252 CTMC-OVM P 92 U 787 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare venous malformation ORPHA:211252 CTMC-OVM P 92 U 785 Rare circulatory system diseases Rare venous malformation ORPHA:211252 CTMC-OVM P 92 U 786 Rare circulatory system diseases Rare venous malformation ORPHA:211252 HEVAS P 131 U 440 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare venous malformation ORPHA:211252 HEVAS P 131 U 438 Rare circulatory system diseases Rare venous malformation ORPHA:211252 HEVAS P 131 U 439 Rare circulatory system diseases Rare arteriovenous malformation ORPHA:211266 AVM in de hersenen P 316 U 1900 Rare neurological diseases Rare neurological diseases Rare arteriovenous malformation ORPHA:211266 AVM in de hersenen P 316 U 1902 Rare circulatory system diseases Rare neurological diseases Rare arteriovenous malformation ORPHA:211266 AVM in de hersenen P 316 U 1901 Rare circulatory system diseases Rare arteriovenous malformation ORPHA:211266 CMTC-OVM P 92 U 788 Rare neurological diseases Rare circulatory system diseases Rare arteriovenous malformation ORPHA:211266 CMTC-OVM P 92 U 791 Rare neurological diseases Rare arteriovenous malformation ORPHA:211266 CMTC-OVM P 92 U 790 Rare circulatory system diseases Rare neurological diseases rare arteriovenous malformation ORPHA:211266 CMTC-OVM P 92 U 789 Rare circulatory system diseases Rare arteriovenous malformation ORPHA:211266 HEVAS P 131 U 441 Rare neurological diseases Rare circulatory system diseases Rare arteriovenous malformation ORPHA:211266 HEVAS P 131 U 444 Rare neurological diseases Rare arteriovenous malformation ORPHA:211266 HEVAS P 131 U 443 Rare circulatory system diseases Rare neurological diseases rare arteriovenous malformation ORPHA:211266 HEVAS P 131 U 442 Rare circulatory system diseases Complex vascular malformation with associated anomalies ORPHA:211277 CTMC-OVM P 92 U 794 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Complex vascular malformation with associated anomalies ORPHA:211277 CTMC-OVM P 92 U 792 Rare circulatory system diseases Complex vascular malformation with associated anomalies ORPHA:211277 CTMC-OVM P 92 U 793 Rare circulatory system diseases Complex vascular malformation with associated anomalies ORPHA:211277 HEVAS P 131 U 447 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Complex vascular malformation with associated anomalies ORPHA:211277 HEVAS P 131 U 445 Rare circulatory system diseases Complex vascular malformation with associated anomalies ORPHA:211277 HEVAS P 131 U 446 Rare gynecologic and obstetric diseases Ovarian Cancer ORPHA:213500 ST Olijf P 88 U 855 Rare gynecologic and obstetric diseases Ovarian cancer ORPHA:213500 ST Olijf P 88 U 857 Rare gynecologic and obstetric diseases Ovarian cancer ORPHA:213500 ST Olijf P 88 U 856 Rare neoplastic diseases Rare neoplastic diseases Familial ovarian cancer ORPHA:213517 ST Olijf P 88 U 858 Rare genetic diseases Rare neoplastic diseases Hereditary site-specific ovarian cancer syndrome ORPHA:213524 ST Olijf P 88 U 860 Rare genetic diseases Rare genetic diseases Hereditary site-specific ovarian cancer syndrome ORPHA:213524 ST Olijf P 88 U 859 Rare neoplastic diseases Rare gynecologic and obstetric diseases Rare uterine cancer ORPHA:213564 ST Olijf P 88 U 861 Rare neoplastic diseases Rare gynecologic and obstetric diseases Rare cancer of the Corpus Uteri ORPHA:213569 ST Olijf P 88 U 862 Rare gynecologic and obstetric diseases Rare cancer of corpus uteri ORPHA:213569 ST Olijf P 88 U 863 Rare neoplastic diseases Rare hepatic diseases Autoimmune hepatitis ORPHA:2137 NLse Leverpatiënten Vereniging (NLV) P 19 U 1668 Rare hepatic diseases Autoimmune hepatitis ORPHA:2137 NLse Leverpatiënten Vereniging (NLV) P 19 U 1667 Rare gynecologic and obstetric diseases Endometrial stromal sarcoma ORPHA:213711 ST Olijf P 88 U 864 Rare gynecologic and obstetric diseases Undifferentiated carcinoma of the corpus uteri ORPHA:213721 ST Olijf P 88 U 865 Rare gynecologic and obstetric diseases Papillary carcinoma of the corpus uteri ORPHA:213726 ST Olijf P 88 U 866 Rare gynecologic and obstetric diseases Rare cancer of cervix uteri ORPHA:213761 ST Olijf P 88 U 867 Rare gynecologic and obstetric diseases Rare cancer of cervix uteri ORPHA:213761 ST Olijf P 88 U 868 Rare gynecologic and obstetric diseases Rare cancer of cervix uteri ORPHA:213761 ST Olijf P 88 U 869 Rare gynecologic and obstetric diseases Rare cancer of cervix uteri ORPHA:213761 ST Olijf P 88 U 870 Rare neoplastic diseases Rare gynecologic and obstetric diseases Squamous cell carcinoma of the cervix uteri ORPHA:213767 ST Olijf P 88 U 871 Rare gynecologic and obstetric diseases Adenocarcinoma of the cervix uteri ORPHA:213772 ST Olijf P 88 U 872 Rare abdominal surgical diseases Congenital diaphragmatic hernia ORPHA:2140 P 122 U 518 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Platform Congenitale Hernia Diafragmatica Rare inborn errors of metabolism Neuronal ceroid lipofuscinosis ORPHA:216 Beat Batten P 310 U 1825 Rare inborn errors of metabolism Neuronal ceroid lipofuscinosis ORPHA:216 Beat Batten P 310 U 1824 Rare inborn errors of metabolism Neuronal ceroid lipofuscinosis ORPHA:216 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1304 Rare inborn errors of metabolism Neuronal ceroid lipofuscinosis ORPHA:216 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1303 Rare abdominal surgical diseases Pouchitis ORPHA:217067 Crohn & Colitis NL P 119 U 572 Rare gastroenterologic diseases Rare neoplastic diseases Renal cell carcinoma ORPHA:217071 Leven met blaas- of nierkanker P 98 U 700 Rare urogenital diseases Rare neoplastic diseases Rare carcinoma of pancreas ORPHA:217074 Living with Hope P 260 U 96 Rare gastroenterologic diseases Rare neurological diseases Limbic encephalitis with NMDA receptor antibodies ORPHA:217253 Epilepsiefonds P 7 U 1798 Rare neurological diseases Limbic encephalitis with NMDA receptor antibodies ORPHA:217253 Nlse Meningitis Stichting P 118 U 1903 Rare cardiac diseases Hypertrophic cardiomyopathy ORPHA:217569 Harteraad P 58 U 1249 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Hypertrophic cardiomyopathy ORPHA:217569 ST Noonan Syndroom P 47 U 1408 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Dilated cardiomyopathy ORPHA:217604 Harteraad P 58 U 1251 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Dilated cardiomyopathy ORPHA:217604 Harteraad P 58 U 1250 Rare cardiac diseases Dilated cardiomyopathy ORPHA:217604 ST Genetische Hartspierziekte PLN P 249 U 104 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Dilated cardiomyopathy ORPHA:217604 ST Genetische Hartspierziekte PLN P 249 U 103 Rare cardiac diseases Restrictive cardiomyopathy ORPHA:217632 Harteraad P 58 U 1252 Rare circulatory system diseases Rare genetic diseases Rare developmental anomalies during Darier disease ORPHA:218 Vereniging voor Ichthyosisnetwerken P 237 U 125 embryogenesis Rare genetic diseases Rare skin diseases Rare genetic diseases Darier disease ORPHA:218 Vereniging voor Ichthyosisnetwerken P 237 U 126 Rare skin diseases Rare cardiac diseases Rare cardiac rhythm disease ORPHA:218436 Harteraad P 58 U 1253 Rare cardiac diseases Rare cardiac rhythm disease ORPHA:218436 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 2018 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare cardiac diseases Rare cardiac rhythm disease ORPHA:218436 Patiëntenvereniging Aangeboren Hartafwijkingen? P 127 U 2017 Rare cardiac malformations Rare circulatory system diseases Rare surgical thoracic diseases Rare cardiac diseases Rare cardiac rhythm disease ORPHA:218436 ST ICD dragers NL (STIN) P 206 U 184 Rare cardiac diseases Rare cardiac rhythm disease ORPHA:218436 ST ICD dragers NL (STIN) P 206 U 186 Rare cardiac malformations Rare circulatory system diseases Rare surgical thoracic diseases Rare cardiac diseases Rare cardiac rhythm disease ORPHA:218436 ST ICD dragers NL (STIN) P 206 U 185 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare cardiac diseases Non-genetic cardiac rhythm disease ORPHA:218439 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 2014 Rare cardiac malformations Rare developmental anomalies during embryogenesis Rare cardiac diseases Non-genetic cardiac rhythm disease ORPHA:218439 ST ICD dragers NL (STIN) P 206 U 187 Rare cardiac malformations Rare developmental anomalies during embryogenesis Rare cardiac diseases Diffuse cutaneous systemic sclerosis ORPHA:220393 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 461 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare cardiac diseases Diffuse cutaneous systemic sclerosis ORPHA:220393 Nierpatiënten Vereniging NL (NVN) P 31 U 1562 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders Rare cardiac diseases Limited cutaneous systemic sclerosis ORPHA:220402 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 462 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare cardiac diseases Limited cutaneous systemic sclerosis ORPHA:220402 Nierpatiënten Vereniging NL (NVN) P 31 U 1563 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare cardiac diseases Limited systemic sclerosis ORPHA:220407 Nierpatiënten Vereniging NL (NVN) P 31 U 1564 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare genetic diseases Geattenueerde familiale adenomateuze polyposis ORPHA:220460 ST Lynch Polyposis P 93 U 764 Rare gastroenterologic diseases Rare genetic diseases Attenuated Familial adenomatous polyposis ORPHA:220460 ST Lynch Polyposis P 93 U 765 Rare neoplastic diseases Rare gynecologic and obstetric diseases Attenuated familial adenomatous polyposis ORPHA:220460 ST Lynch Polyposis P 93 U 763 Rare neoplastic diseases Rare hematologic diseases Rare hereditary hemochromatosis ORPHA:220489 Hemochromatose Vereniging NL (HVN) P 107 U 638 Rare inborn errors of metabolism Rare immunological diseases Dermatomyositis ORPHA:221 Huid NL P 161 U 279 Rare systemic and rheumatological diseases

Rare immunological diseases Dermatomyositis ORPHA:221 Spierziekten NL P 43 U 1435 Rare systemic and rheumatological diseases

Rare immunological diseases Dermatomyositis ORPHA:221 ST KAISZ P 135 U 389 Rare systemic and rheumatological diseases

Rare neurological diseases Hemifacial spasm ORPHA:221083 Dystonie Vereniging P 59 U 1228 Rare neurological diseases Trigeminal neuralgia ORPHA:221091 Hoofdpijnnet P 32 U 1553 Rare neurological diseases Trigeminal neuralgia ORPHA:221091 Hoofdpijnnet P 32 U 1552 Rare neurological diseases Glossopharyngeal neuralgia ORPHA:221098 Hoofdpijnnet P 32 U 1554 Rare bone diseases Bone sarcoma ORPHA:223727 ST Patiëntenplatform Sarcomen P 94 U 716 Rare neoplastic diseases Rare neoplastic diseases Bone sarcoma ORPHA:223727 ST Patiëntenplatform Sarcomen P 94 U 717 Rare neoplastic diseases Bone Sarcoma ORPHA:223727 ST Patiëntenplatform Sarcomen P 94 U 719 Rare bone diseases Bone sarcoma ORPHA:223727 ST Patiëntenplatform Sarcomen P 94 U 718 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Bone sarcoma ORPHA:223727 Vereniging Kinderkanker NL P 82 U 914 Rare neoplastic diseases Rare neoplastic diseases Bone sarcoma ORPHA:223727 Vereniging Kinderkanker NL P 82 U 915 Rare neoplastic diseases Bone Sarcoma ORPHA:223727 Vereniging Kinderkanker NL P 82 U 917 Rare bone diseases Bone sarcoma ORPHA:223727 Vereniging Kinderkanker NL P 82 U 916 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare hematologic diseases Lymphoma ORPHA:223735 ST Hematon P 81 U 962 Rare hematologic diseases Lymphoma ORPHA:223735 ST Huidlymfoom P 311 U 1852 Rare respiratory diseases Primary pulmonary hypoplasia ORPHA:2257 Zonder patiëntenorganisatie P nvt U 527 Rare surgical thoracic diseases Rare immunological diseases ICF syndrome ORPHA:2268 ST voor Afweerstoornissen (SAS) P 72 U 1093 Rare genetic diseases Rare neoplastic diseases Hereditary breast cancer ORPHA:227535 Borstkankervereniging NL (BVN) P 89 U 836 Rare genetic diseases Rare gastroenterologic diseases Hereditary breast cancer ORPHA:227535 Borstkankervereniging NL (BVN) P 89 U 838 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Hereditary Breast Cancer ORPHA:227535 Borstkankervereniging NL (BVN) P 89 U 839 Rare neoplastic diseases Rare genetic diseases Hereditary breast cancer ORPHA:227535 Borstkankervereniging NL (BVN) P 89 U 837 Rare neoplastic diseases Rare abdominal surgical diseases Anal fistula ORPHA:228113 Crohn & Colitis NL P 119 U 573 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases Anal fistula ORPHA:228113 Crohn & Colitis NL P 119 U 575 Rare gastroenterologic diseases Rare abdominal surgical diseases Anal fistula ORPHA:228113 Crohn & Colitis NL P 119 U 574 Rare gastroenterologic diseases Rare abdominal surgical diseases Anal fistula ORPHA:228113 Vereniging Anusatresie P 120 U 556 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases Anal fistula ORPHA:228113 Vereniging Anusatresie P 120 U 558 Rare gastroenterologic diseases Rare abdominal surgical diseases Anal fistula ORPHA:228113 Vereniging Anusatresie P 120 U 557 Rare gastroenterologic diseases Rare cardiac diseases Idiopathic ventricular fibrillation - not Brugada type ORPHA:228140 Harteraad P 58 U 1257 Rare cardiac diseases Idiopathic ventricular fibrillation - not Brugada type ORPHA:228140 ST ICD dragers NL (STIN) P 206 U 188 Rare neurological diseases Multiple sclerosis variant ORPHA:228145 MS Vereniging NL P 21 U 1651 Rare inborn errors of metabolism CLN3-ziekte ORPHA:228346 Beat Batten P 310 U 1826 Rare inborn errors of metabolism CLN3-ziekte ORPHA:228346 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1305 Rare neurological diseases Neuronal intranuclear inclusion disease ORPHA:2289 Alzheimer NL P 2 U 1827 Rare abdominal surgical diseases Microvillus inclusion disease ORPHA:2290 Maag Lever Darm ST P 105 U 643 Rare gastroenterologic diseases Rare transplant-related disorders Rare abdominal surgical diseases Congenital short bowel syndrome ORPHA:2301 Crohn & Colitis NL P 119 U 576 Rare gastroenterologic diseases Rare transplant-related disorders Rare gastroenterologic diseases High-grade dysplasia in patients with Barrett esophagus ORPHA:231080 Zonder patiëntenorganisatie P nvt U 1177 Rare neoplastic diseases Rare neurological diseases Familial cerebral saccular aneurysm ORPHA:231160 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1904 Rare circulatory system diseases Rare neurological diseases Familial cerebral saccular aneurysm ORPHA:231160 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1892 Rare circulatory system diseases Rare hematologic diseases Sickle cell anemia ORPHA:232 OSCAR Nederland P 73 U 1064 Rare developmental anomalies during Kabuki syndrome ORPHA:2322 Netwerk Kabuki Syndroom P 151 U 349 embryogenesis Rare genetic diseases Rare cardiac diseases Kawasaki disease ORPHA:2331 Vasculitits ST P 51 U 1388 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare systemic or rheumatologic diseases of Kawasaki disease ORPHA:2331 Vasculitits ST P 51 U 1389 childhood Rare neurological diseases KBG syndrome ORPHA:2332 Zeldsamen P 290 U 32 Rare developmental anomalies during embryogenesis Rare respiratory diseases Bronchogenic cyst ORPHA:2357 Zonder patiëntenorganisatie P nvt U 528 Rare surgical thoracic diseases Rare endocrine diseases Familial hyperaldosteronism ORPHA:235936 Bijniervereniging (NVACP) P 64 U 1154 Rare neoplastic diseases Rare urogenital diseases Rare abdominal surgical diseases Gastroschisis ORPHA:2368 Maag Lever Darm ST P 105 U 644 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases Gastroschisis ORPHA:2368 Maag Lever Darm ST P 105 U 645 Rare gastroenterologic diseases Rare transplant-related disorders Rare otorhinolaryngological diseases Congenital laryngomalacia ORPHA:2373 Zonder patiëntenorganisatie P nvt U 244 Rare genetic diseases 15q11q13 microduplication syndrome ORPHA:238446 Zeldsamen P 290 U 33 Rare neurological diseases Rare abdominal surgical diseases Ileal pouch anal anastomosis related faecal incontinence ORPHA:238621 Vereniging Anusatresie P 120 U 559 Rare gastroenterologic diseases Rare endocrine diseases Isolated congenital hypogonadotropic hypogonadism ORPHA:238666 NLse Hypofyse ST (NHS) P 65 U 1132 Rare urogenital diseases Rare neurological diseases Classical progressive supranuclear palsy ORPHA:240071 Parkinson Vereniging NL P 35 U 1520 Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 CTMC-OVM P 92 U 797 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 CTMC-OVM P 92 U 795 Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 CTMC-OVM P 92 U 796 Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 HEVAS P 131 U 450 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 HEVAS P 131 U 448 Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 HEVAS P 131 U 449 Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 LGD Alliance NL P 200 U 204 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 LGD Alliance NL P 200 U 202 Rare circulatory system diseases Rare lymphatic malformation ORPHA:2415 LGD Alliance NL P 200 U 203 Rare circulatory system diseases Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416 CMTC-OVM P 92 U 798 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416 HEVAS P 131 U 451 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416 NL Net P 142 U 368 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare gynecologic and obstetric diseases Acute fatty liver of pregnancy ORPHA:243367 NLse Leverpatiënten Vereniging (NLV) P 19 U 1669 Rare hepatic diseases Rare allergic disease Primary ciliary dyskinesia ORPHA:244 ST PCD Belangengroep P 143 U 366 Rare respiratory diseases Rare respiratory diseases Primary ciliary dyskinesia ORPHA:244 ST PCD Belangengroep P 143 U 367 Rare gynecologic and obstetric diseases HELLP syndrome ORPHA:244242 Care4Neo P 114 U 607 Rare circulatory system diseases HELLP syndrome ORPHA:244242 Care4Neo P 114 U 606 Rare gynecologic and obstetric diseases Rare gynecologic and obstetric diseases HELLP syndrome ORPHA:244242 Hellp ST P 113 U 621 Rare circulatory system diseases HELLP syndrome ORPHA:244242 Hellp ST P 113 U 620 Rare gynecologic and obstetric diseases Rare allergic disease Congenital pulmonary airway malformation ORPHA:2444 Zonder patiëntenorganisatie P nvt U 529 Rare respiratory diseases Rare respiratory diseases Congenital pulmonary airway malformation ORPHA:2444 Zonder patiëntenorganisatie P nvt U 530 Rare surgical thoracic diseases Rare cardiac diseases Arrhythmogenic right ventricular cardiomyopathy ORPHA:247 Harteraad P 58 U 1261 Rare circulatory system diseases Rare genetic diseases Rare cardiac diseases Arrhythmogenic right ventricular cardiomyopathy ORPHA:247 Harteraad P 58 U 1260 Rare genetic diseases Retinal vasculopathy with cerebral leukoencephalopathy and systemic manORPHA:247691 Oogvereniging P 100 U 671 Rare neurological diseases Rare genetic diseases Retinal vasculopathy with cerebral leukoencephalopathy and systemic manORPHA:247691 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1306 Rare neurological diseases Rare hematologic diseases FTH1-related iron overload ORPHA:247790 NLse Leverpatiënten Vereniging (NLV) P 19 U 1670 Rare inborn errors of metabolism Rare genetic diseases MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798 ST Lynch Polyposis P 93 U 766 Rare gastroenterologic diseases Rare gastroenterologic diseases MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798 ST Lynch Polyposis P 93 U 767 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases APC-related attenuated familial adenomatous polyposis ORPHA:247806 ST Lynch Polyposis P 93 U 768 Rare gastroenterologic diseases Rare hematologic diseases Rare hemorrhagic disorder ORPHA:248308 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1034 Rare hematologic diseases Rare hemorrhagic disorder ORPHA:248308 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1036 Rare hematologic diseases Rare hemorrhagic disorder ORPHA:248308 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1035 Rare hematologic diseases Rare hemorrhagic disorder due to a coagulation factors defect ORPHA:248315 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1040 Rare hematologic diseases Rare hemorrhagic disorder due to a coagulation factors defect ORPHA:248315 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1037 Rare hematologic diseases Rare hemorrhagic disorder due to a coagulation factors defect ORPHA:248315 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1038 Rare hematologic diseases Rare hemorrhagic disorder due to a coagulation factors defect ORPHA:248315 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1039 Rare hematologic diseases Rare hemorrhagic disorder due to a platelet anomaly ORPHA:248326 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1043 Rare hematologic diseases Rare hemorrhagic disorder due to a platelet anomaly ORPHA:248326 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1044 Rare hematologic diseases Rare hemorrhagic disorder due to a platelet anomaly ORPHA:248326 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1041 Rare hematologic diseases Rare hemorrhagic disorder due to a platelet anomaly ORPHA:248326 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1042 Rare hematologic diseases Rare hemorrhagic disorder due to an acquired platelet anomaly ORPHA:248347 ITP vereniging P 79 U 1003 Rare bone diseases Fibrous dysplasia of bone ORPHA:249 Patiëntenvereniging Fibreuze Dysplasie P 246 U 120 Rare neoplastic diseases Meningioma ORPHA:2495 P 91 U 813 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Hersenletsel.nl Rare neoplastic diseases Meningioma ORPHA:2495 Hersenletsel.nl P 91 U 814 Rare bone diseases Meningioma ORPHA:2495 P 91 U 815 Rare endocrine diseases Hersenletsel.nl Rare inborn errors of metabolism Glutaryl-CoA dehydrogenase deficiency ORPHA:25 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1307 Rare renal diseases Overlapping connective tissue disease ORPHA:251312 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 463 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare neoplastic diseases Rare tumor of neuroepithelial tissue ORPHA:251558 P 91 U 817 Rare neurological diseases Hersenletsel.nl Rare neoplastic diseases Rare tumor of neuroepithelial tissue ORPHA:251558 Hersenletsel.nl P 91 U 816 Rare neoplastic diseases Rare tumor of neuroepithelial tissue ORPHA:251558 P 91 U 818 Rare neurological diseases Hersenletsel.nl Rare neoplastic diseases Rare tumor of neuroepithelial tissue ORPHA:251558 Vereniging Kinderkanker NL P 82 U 919 Rare neurological diseases Rare neoplastic diseases Rare tumor of neuroepithelial tissue ORPHA:251558 Vereniging Kinderkanker NL P 82 U 918 Rare neoplastic diseases Rare tumor of neuroepithelial tissue ORPHA:251558 Vereniging Kinderkanker NL P 82 U 920 Rare neurological diseases Rare neoplastic diseases Tumor of cranial and spinal nerves ORPHA:252057 ST Hoormij P 33 U 1905 Rare otorhinolaryngological diseases Rare neoplastic diseases Tumor of cranial and spinal nerves ORPHA:252057 ST Hoormij P 33 U 1530 Rare otorhinolaryngological diseases Rare neurological diseases Benign peripheral nerve sheath tumor ORPHA:252131 Neurofibromatosevereniging NL (NFVN) P 30 U 1622 Rare neoplastic diseases Benign schwannoma ORPHA:252164 Neurofibromatosevereniging NL (NFVN) P 30 U 1624 Rare otorhinolaryngological diseases Rare neoplastic diseases Benign schwannoma ORPHA:252164 Neurofibromatosevereniging NL (NFVN) P 30 U 1623 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare neoplastic diseases Benign schwannoma ORPHA:252164 ST Hoormij P 33 U 1532 Rare otorhinolaryngological diseases Rare neoplastic diseases Benign schwannoma ORPHA:252164 ST Hoormij P 33 U 1531 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare neoplastic diseases Vestibular schwannoma ORPHA:252175 Neurofibromatosevereniging NL (NFVN) P 30 U 1626 Rare otorhinolaryngological diseases Rare neoplastic diseases Vestibular schwannoma ORPHA:252175 Neurofibromatosevereniging NL (NFVN) P 30 U 1625 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare neoplastic diseases Vestibular schwannoma ORPHA:252175 ST Hoormij P 33 U 1534 Rare otorhinolaryngological diseases Rare neoplastic diseases Vestibular schwannoma ORPHA:252175 ST Hoormij P 33 U 1533 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare genetic diseases Melanoma and neural system tumor syndrome ORPHA:252206 ST Melanoom P 96 U 703 Rare neoplastic diseases Rare skin diseases Rare endocrine diseases Temple syndrome ORPHA:254516 Prader-Willi ST P 236 U 129 Rare gynecologic and obstetric diseases Gestational trophoblastic disease ORPHA:254685 ST Olijf P 88 U 874 Rare gynecologic and obstetric diseases Gestational trophoblastic disease ORPHA:254685 ST Olijf P 88 U 873 Rare neoplastic diseases Rare circulatory system diseases Moyamoya disease ORPHA:2573 Hersenletsel.nl P 91 U 1906 Rare genetic diseases Rare neurological diseases Rare infectious diseases Mycetoma ORPHA:2583 Zonder patiëntenorganisatie P nvt U nvt Rare gastroenterologic diseases Familial visceral myopathy ORPHA:2604 Maag Lever Darm ST P 105 U 646 Rare genetic diseases Hereditary diffuse gastric cancer ORPHA:26106 Zonder patiëntenorganisatie P nvt U 1178 Rare neoplastic diseases Rare developmental anomalies during Proximal 16p11.2 microdeletion syndrome ORPHA:261197 Zeldsamen P 290 U 34 embryogenesis Rare genetic diseases Rare developmental anomalies during 16p11.2p12.2 microduplication syndrome ORPHA:261204 Zeldsamen P 290 U 35 embryogenesis Rare genetic diseases Rare developmental anomalies during Distal 16p11.2 microdeletion syndrome ORPHA:261222 Zeldsamen P 290 U 36 embryogenesis Rare genetic diseases Rare neurological diseases Kleefstra syndrome ORPHA:261494 Zeldsamen P 290 U 37 Rare developmental anomalies during embryogenesis Rare developmental anomalies during Anomaly of Chromosome 6 ORPHA:261712 Zeldsamen P 290 U 38 embryogenesis Rare genetic diseases Rare neurological diseases Duchenne and Becker muscular dystrophy ORPHA:262 Duchenne Parent Project P 6 U 1809 Rare neurological diseases Duchenne and Becker muscular dystrophy ORPHA:262 Duchenne Parent Project P 6 U 1807 Rare neurological diseases Duchenne and Becker muscular dystrophy ORPHA:262 Duchenne Parent Project P 6 U 1808 Rare neurological diseases Duchenne and Becker muscular dystrophy ORPHA:262 Spierziekten NL P 43 U 1438 Rare neurological diseases Duchenne and Becker muscular dystrophy ORPHA:262 Spierziekten NL P 43 U 1436 Rare neurological diseases Duchenne and Becker muscular dystrophy ORPHA:262 Spierziekten NL P 43 U 1437 Rare neurological diseases Limb Girdle Muscular Dystrophy ORPHA:263 Spierziekten NL P 43 U 1439 Rare inborn errors of metabolism Glycogen storage disease due to liver phosphorylase kinase deficiency ORPHA:264580 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1308 Rare renal diseases Interstitial lung disease specific to adulthood ORPHA:264735 Belangenvereniging Longfibrosepatiënten NL P 152 U 342 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare renal diseases Interstitial lung disease specific to adulthood ORPHA:264735 Sarcoïdose NL P 40 U 1509 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare renal diseases Interstitial lung disease specific to adulthood ORPHA:264735 ST LAM NL P 160 U 303 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare renal diseases Secondary interstitial lung disease specific to adulthood associated with a sORPHA:264745 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1958 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare renal diseases Secondary interstitial lung disease specific to adulthood associated with a sORPHA:264745 Sarcoïdose NL P 40 U 1510 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare renal diseases Interstitial lung disease in childhood and adulthood ORPHA:264757 Zonder patiëntenorganisatie P nvt U 531 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare renal diseases Secondary interstitial lung disease in childhood and adulthood associated wORPHA:264949 Zonder patiëntenorganisatie P nvt U 532 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare renal diseases Exposure-related interstitial lung disease ORPHA:264984 Belangenvereniging Longfibrosepatiënten NL P 152 U 344 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare respiratory diseases Genetic interstitial lung disease ORPHA:264992 LGD Alliance NL P 200 U 205 Rare respiratory diseases Genetic interstitial lung disease ORPHA:264992 LGD Alliance NL P 200 U 206 Rare inborn errors of metabolism Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791 Spierziekten NL P 43 U 1440 Rare developmental anomalies during Neural tube closure defect ORPHA:268357 SBH NL P 286 U 62 embryogenesis Rare genetic diseases Rare neurological diseases Rare developmental anomalies during Neural tube closure defect ORPHA:268357 SBH NL P 286 U 63 embryogenesis Rare neurological diseases Rare developmental anomalies during Neural tube closure defect ORPHA:268357 Syringomyelie Patiënten Vereniging (SPV) P 177 U 216 embryogenesis Rare genetic diseases Rare neurological diseases Rare developmental anomalies during Neural tube closure defect ORPHA:268357 Syringomyelie Patiënten Vereniging (SPV) P 177 U 217 embryogenesis Rare neurological diseases Rare surgical maxillo-facial diseases Cephalocele ORPHA:268817 LaPosa P 17 U 1751 Rare neurological diseases Malformation of the neurenteric canal, spinal cord and column ORPHA:268843 SBH NL P 286 U 64 Rare neurological diseases Cerebral cortical dysplasia ORPHA:268950 Epilepsiefonds P 7 U 1799 Rare neurological diseases Facioscapulohumeral muscular dystrophy ORPHA:269 Spierziekten NL P 43 U 1441 Rare neurological diseases Facioscapulohumeral muscular dystrophy ORPHA:269 Spierziekten NL P 43 U 1442 Rare neurological diseases Oculopharyngeal muscular dystrophy ORPHA:270 Spierziekten NL P 43 U 1444 Rare neurological diseases Oculopharyngeal muscular dystrophy ORPHA:270 Spierziekten NL P 43 U 1443 Rare genetic diseases Hereditary ATTR amyloidosis ORPHA:271861 ST Amyloïdose NL P 138 U 378 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare gynecologic and obstetric diseases Preeclampsia ORPHA:275555 Care4Neo P 114 U 609 Rare circulatory system diseases Preeclampsia ORPHA:275555 Care4Neo P 114 U 608 Rare gynecologic and obstetric diseases Rare gynecologic and obstetric diseases Preeclampsia ORPHA:275555 Hellp ST P 113 U 622 Rare circulatory system diseases Preeclampsia ORPHA:275555 Hellp ST P 113 U 2049 Rare gynecologic and obstetric diseases Rare hematologic diseases Alpha-thalassemia and related diseases ORPHA:275745 OSCAR Nederland P 73 U 1065 Rare hematologic diseases Alpha-thalassemia and related diseases ORPHA:275745 OSCAR Nederland P 73 U 1066 Rare hematologic diseases Beta-thalassemia and related diseases ORPHA:275749 OSCAR Nederland P 73 U 1068 Rare hematologic diseases Beta-thalassemia and related diseases ORPHA:275749 OSCAR Nederland P 73 U 1067 Rare hematologic diseases Sickle cell disease and related diseases ORPHA:275752 OSCAR Nederland P 73 U 1070 Rare hematologic diseases Sickle cell disease and related diseases ORPHA:275752 OSCAR Nederland P 73 U 1069 Rare respiratory diseases Idiopathic pulmonary arterial hypertension ORPHA:275766 ST Pulmonale Hypertensie P 158 U 317 Rare respiratory diseases Idiopathic pulmonary arterial hypertension ORPHA:275766 ST Pulmonale Hypertensie P 158 U 316 Rare respiratory diseases Pulmonary arterial hypertension associated with another disease ORPHA:275791 ST Pulmonale Hypertensie P 158 U 318 Rare renal diseases Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1962 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare respiratory diseases Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1964 Rare respiratory diseases Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 1963 Rare renal diseases Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798 ST Pulmonale Hypertensie P 158 U 319 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare respiratory diseases Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798 ST Pulmonale Hypertensie P 158 U 321 Rare respiratory diseases Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798 ST Pulmonale Hypertensie P 158 U 320 Rare respiratory diseases Pulmonary arterial hypertension associated with congenital heart disease ORPHA:275803 ST Pulmonale Hypertensie P 158 U 323 Rare respiratory diseases Pulmonary arterial hypertension associated with congenital heart disease ORPHA:275803 ST Pulmonale Hypertensie P 158 U 322 Rare respiratory diseases Pulmonary arterial hypertension associated with portal hypertension ORPHA:275813 ST Pulmonale Hypertensie P 158 U 324 Rare respiratory diseases Pulmonary arterial hypertension associated with chronic hemolytic anemia ORPHA:275828 ST Pulmonale Hypertensie P 158 U 325 Rare respiratory diseases Pulmonary hypertension owing to lung disease and/or hypoxia ORPHA:275837 ST Pulmonale Hypertensie P 158 U 327 Rare respiratory diseases Pulmonary hypertension owing to lung disease and/or hypoxia ORPHA:275837 ST Pulmonale Hypertensie P 158 U 326 Rare respiratory diseases Pulmonary hypertension with unclear multifactorial mechanism ORPHA:275844 ST Pulmonale Hypertensie P 158 U 328 Rare neurological diseases Frontotemporal dementia with motor neuron disease ORPHA:275872 Alzheimer NL P 2 U 1828 Rare neurological diseases Frontotemporal dementia with motor neuron disease ORPHA:275872 FTD Lotgenoten P 9 U 1787 Rare gynecologic and obstetric diseases Hemolytic disease due to fetomaternal alloimmunization ORPHA:275938 Care4Neo P 114 U 610 Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Hoofd-Hals P 169 U 1876 Rare otorhinolaryngological diseases Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Hoofd-Hals P 169 U 1877 Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Hoofd-Hals P 169 U 1875 Rare gastroenterologic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Hoofd-Hals P 169 U 1878 Rare neoplastic diseases Rare otorhinolaryngological diseases Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Hoofd-Hals P 169 U 1874 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Speekselklierkanker P 255 U 100 Rare otorhinolaryngological diseases Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Speekselklierkanker P 255 U 101 Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Speekselklierkanker P 255 U 99 Rare gastroenterologic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Speekselklierkanker P 255 U 102 Rare neoplastic diseases Rare otorhinolaryngological diseases Rare neoplastic diseases Rare tumor of salivary glands ORPHA:276142 Patiëntenvereniging Speekselklierkanker P 255 U 98 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare bone diseases Osteochondritis dissecans ORPHA:2764 Zonder patiëntenorganisatie P nvt U nvt Rare neurological diseases Hypnic headache ORPHA:276429 Hoofdpijnnet P 32 U 1555 Rare endocrine diseases Sporadic pheochromocytoma/secreting paraganglioma ORPHA:276621 Bijniervereniging (NVACP) P 64 U 1155 Rare endocrine diseases Sporadic pheochromocytoma/secreting paraganglioma ORPHA:276621 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1636 Rare neoplastic diseases Primary intraocular lymphoma ORPHA:279904 NFK-Patiëntenplatform zeldzame kankers P 18 U 1707 Rare ophthalmic disorders Rare neoplastic diseases Primary intraocular lymphoma ORPHA:279904 ST Hematon P 81 U 1965 Rare ophthalmic disorders Rare neoplastic diseases Intermediate uveitis ORPHA:279914 Oogvereniging P 100 U 672 Rare ophthalmic disorders Rare gynecologic and obstetric diseases Extramammary Paget disease ORPHA:2800 Borstkankervereniging NL (BVN) P 89 U 840 Rare neoplastic diseases Rare immunological diseases Rare systemic or rheumatologic diseases of childhood ORPHA:280342 Jeugdreuma Vereniging NL P 134 U 416 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare systemic or rheumatologic diseases of Rare systemic or rheumatologic diseases of childhood ORPHA:280342 Jeugdreuma Vereniging NL P 134 U 417 childhood Rare cardiac diseases Rare pediatric vasculitis ORPHA:280369 Vasculitits ST P 51 U 1390 Rare circulatory system diseases Rare immunological diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare urogenital diseases

Rare neurological diseases Rare Pediatric Vasculitis ORPHA:280369 Vasculitits ST P 51 U 1391 Rare renal diseases Rare systemic or rheumatologic diseases of childhood Rare inborn errors of metabolism Progressive myoclonic epilepsy type 6 ORPHA:280620 Epilepsiefonds P 7 U 1800 Rare genetic diseases Rare neurological diseases Rare neoplastic diseases Anterior uveitis ORPHA:280886 Oogvereniging P 100 U 673 Rare ophthalmic disorders Rare neoplastic diseases Posterior uveitis ORPHA:280892 Oogvereniging P 100 U 674 Rare ophthalmic disorders Rare neoplastic diseases Panuveitis ORPHA:280898 Oogvereniging P 100 U 675 Rare ophthalmic disorders Rare neurological diseases Frontotemporal dementia ORPHA:282 Alzheimer NL P 2 U 1829 Rare neurological diseases Frontotemporal dementia ORPHA:282 FTD Lotgenoten P 9 U 1788 Rare developmental anomalies during Familial benign chronic pemphigus (Hailey-Hailey disease) ORPHA:2841 Hailey Hailey P 302 U 16 embryogenesis Rare genetic diseases Rare skin diseases Rare genetic diseases Familial benign chronic pemphigus (Hailey-Hailey disease) ORPHA:2841 Hailey Hailey P 302 U 17 Rare skin diseases Rare gastroenterologic diseases Response to antiviral treatment in hepatitis C ORPHA:284102 NLse Leverpatiënten Vereniging (NLV) P 19 U 1671 Rare systemic and rheumatological diseases IgG4-related diseases ORPHA:284264 ST voor Afweerstoornissen (SAS) P 72 U 1095

Rare immunological diseases IgG4-related diseases ORPHA:284264 ST voor Afweerstoornissen (SAS) P 72 U 1094 Rare genetic diseases Phosphoserine aminotransferase deficiency, infantile/juvenile form ORPHA:284417 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1309 Rare inborn errors of metabolism Rare neurological diseases CLIPPERS ORPHA:284448 ADCA/Ataxie Vereniging NL P 1 U 1907 Rare neurological diseases CLIPPERS ORPHA:284448 Epilepsiefonds P 7 U 1801 Rare inborn errors of metabolism Disorder of phenylalanine metabolism ORPHA:284814 PKU Vereniging NL P 37 U 1516 Rare inborn errors of metabolism Disorder of phenylalanine metabolism ORPHA:284814 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1310 Rare genetic diseases Marfan and Marfan-related disorders ORPHA:284993 Contactgroep Marfan NL P 147 U 355 Rare systemic and rheumatological diseases

Rare genetic diseases Marfan and Marfan-related disorders ORPHA:284993 Contactgroep Marfan NL P 147 U 354 Rare bone diseases Marfan and Marfan-related disorders ORPHA:284993 Contactgroep Marfan NL P 147 U 353 Rare circulatory system diseases Rare developmental anomalies during embryogenesis Rare genetic diseases Rare ophthalmic disorders Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare genetic diseases Disorder of folate metabolism and transport ORPHA:285657 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1311 Rare inborn errors of metabolism Rare circulatory system diseases Vascular Ehlers-Danlos syndrome ORPHA:286 EDS Fonds P 309 U 1843 Rare developmental anomalies during embryogenesis Rare circulatory system diseases Vascular Ehlers-Danlos syndrome ORPHA:286 Vereniging van Ehlers Danlos Patiënten (VED) P 148 U 350 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Peutz-Jeghers syndrome ORPHA:2869 ST Lynch Polyposis P 93 U 769 Rare genetic diseases Rare neoplastic diseases Rare hematologic diseases Hereditary elliptocytosis ORPHA:288 ST Zeldzame Bloedziekten P 75 U 1018 Rare cardiac diseases Primary Sjögren syndrome ORPHA:289390 Nationale Vereniging Sjögrenpatiënten (NVSP) P 22 U 1648 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare systemic and rheumatological diseases Primary Sjögren Syndrome ORPHA:289390 Nationale Vereniging Sjögrenpatiënten (NVSP) P 22 U 1649

Rare genetic diseases BAP1-related tumor predisposition syndrome ORPHA:289539 ST Melanoom P 96 U 704 Rare neoplastic diseases Rare skin diseases Rare neoplastic diseases Juvenile nasopharyngeal angiofibroma ORPHA:289596 Zonder patiëntenorganisatie P nvt U 246 Rare otorhinolaryngological diseases Rare neoplastic diseases Juvenile nasopharyngeal angiofibroma ORPHA:289596 Zonder patiëntenorganisatie P nvt U 245 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Rare developmental anomalies during Pitt-Hopkins syndrome ORPHA:2896 ST Pitt Hopkins Syndroom P 145 U 364 embryogenesis Rare circulatory system diseases Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825 CMTC-OVM P 92 U 799 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825 HEVAS P 131 U 452 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825 NL Net P 142 U 369 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare inborn errors of metabolism Organic aciduria ORPHA:289899 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1312 Rare neurological diseases Neuralgic amyotrophy ORPHA:2901 Spierziekten NL P 43 U 1446 Rare neurological diseases Neuralgic amyotrophy ORPHA:2901 Spierziekten NL P 43 U 1445 Rare hematologic diseases POEMS syndrome ORPHA:2905 ST Hematon P 81 U 963 Rare immunological diseases Rare transplant-related disorders Rare gastroenterologic diseases Hereditary pheochromocytoma-paraganglioma ORPHA:29072 Bijniervereniging (NVACP) P 64 U 1158 Rare neoplastic diseases Rare otorhinolaryngological diseases Rare endocrine diseases Hereditary pheochromocytoma-paraganglioma ORPHA:29072 Bijniervereniging (NVACP) P 64 U 1157 Rare endocrine diseases Hereditary pheochromocytoma-paraganglioma ORPHA:29072 Bijniervereniging (NVACP) P 64 U 1156 Rare gastroenterologic diseases Hereditary pheochromocytoma-paraganglioma ORPHA:29072 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1639 Rare neoplastic diseases Rare otorhinolaryngological diseases Rare endocrine diseases Hereditary pheochromocytoma-paraganglioma ORPHA:29072 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1638 Rare endocrine diseases Hereditary pheochromocytoma-paraganglioma ORPHA:29072 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1637 Rare hematologic diseases Multiple myeloma ORPHA:29073 ST Hematon P 81 U 968 Rare transplant-related disorders Rare hematologic diseases Multiple myeloma ORPHA:29073 ST Hematon P 81 U 966 Rare hematologic diseases Multiple myeloma ORPHA:29073 ST Hematon P 81 U 967 Rare immunological diseases Rare transplant-related disorders Rare hematologic diseases Multiple myeloma ORPHA:29073 ST Hematon P 81 U 965 Rare neoplastic diseases Rare hematologic diseases Multiple myeloma ORPHA:29073 ST Hematon P 81 U 964 Rare neoplastic diseases Rare skin diseases Systemic disease with skin involvement ORPHA:290836 Huid NL P 161 U 283 Rare immunological diseases Autoinflammatory syndrome with immune deficiency ORPHA:290839 ST KAISZ P 135 U 390 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 Patiëntenvereniging Hoofd-Hals P 169 U 251 Rare neurological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 Patiëntenvereniging Hoofd-Hals P 169 U 250 Rare otorhinolaryngological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 Patiëntenvereniging Hoofd-Hals P 169 U 249 Rare gastroenterologic diseases Rare head and neck tumor ORPHA:290849 Patiëntenvereniging Hoofd-Hals P 169 U 252 Rare neoplastic diseases Rare otorhinolaryngological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 Patiëntenvereniging Hoofd-Hals P 169 U 248 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 Patiëntenvereniging Hoofd-Hals P 169 U 247 Rare otorhinolaryngological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 ST Hoormij P 33 U 1539 Rare neurological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 ST Hoormij P 33 U 1538 Rare otorhinolaryngological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 ST Hoormij P 33 U 1537 Rare gastroenterologic diseases Rare head and neck tumor ORPHA:290849 ST Hoormij P 33 U 1540 Rare neoplastic diseases Rare otorhinolaryngological diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 ST Hoormij P 33 U 1536 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Rare head and neck tumor ORPHA:290849 ST Hoormij P 33 U 1535 Rare otorhinolaryngological diseases Rare hepatic diseases Isolated polycystic liver disease ORPHA:2924 NLse Leverpatiënten Vereniging (NLV) P 19 U 1672 Rare neurological diseases Chronic inflammatory demyelinating polyneuropathy ORPHA:2932 Spierziekten NL P 43 U 1448 Rare neurological diseases Chronic inflammatory demyelinating polyneuropathy ORPHA:2932 Spierziekten NL P 43 U 1447 Rare abdominal surgical diseases Celiac artery compression syndrome ORPHA:293208 Maag Lever Darm ST P 105 U 647 Rare gastroenterologic diseases Rare genetic diseases MITF-related melanoma and renal cell carcinoma predisposition syndrome ORPHA:293822 ST Melanoom P 96 U 705 Rare neoplastic diseases Rare skin diseases Rare infectious diseases Fetal cytomegalovirus syndrome ORPHA:294 Care4Neo P 114 U 611 Rare infectious diseases Fetal cytomegalovirus syndrome ORPHA:294 ST CMV P 320 U 2022 Rare developmental anomalies during Rare nevus ORPHA:294057 Nevus Netwerk P 141 U 375 embryogenesis Rare genetic diseases Rare skin diseases Rare neurological diseases Postpoliomyelitis syndrome ORPHA:2942 Spierziekten NL P 43 U 1449 Rare abdominal surgical diseases Chronic intestinal failure ORPHA:294422 Crohn & Colitis NL P 119 U 577 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases Chronic intestinal failure ORPHA:294422 Crohn & Colitis NL P 119 U 578 Rare gastroenterologic diseases Rare abdominal surgical diseases Chronic intestinal failure ORPHA:294422 Crohn & Colitis NL P 119 U 579 Rare gastroenterologic diseases Rare transplant-related disorders Rare gastroenterologic diseases Chronic intestinal failure ORPHA:294422 Crohn & Colitis NL P 119 U 580 Rare abdominal surgical diseases Rare gastroenterologic diseases Chronic intestinal failure ORPHA:294422 Maag Lever Darm ST P 105 U 648 Rare developmental anomalies during Syndrome with limb reduction defects ORPHA:294955 Handvereniging P 13 U 1776 embryogenesis Rare bone diseases Rare gynecologic and obstetric diseases Fetal parvovirus syndrome ORPHA:295 Care4Neo P 114 U 612 Rare bone diseases Ollier disease ORPHA:296 HME-MO Vereniging NL P 15 U 1763 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Ollier disease ORPHA:296 Vereniging Kinderkanker NL P 82 U 921 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare endocrine diseases Prolactinoma ORPHA:2965 NLse Hypofyse ST (NHS) P 65 U 1133 Rare abdominal surgical diseases Chronic intestinal pseudoobstruction ORPHA:2978 Vereniging Ziekte van Hirschsprung P 123 U 509 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases Chronic intestinal pseudoobstruction ORPHA:2978 Vereniging Ziekte van Hirschsprung P 123 U 510 Rare gastroenterologic diseases Rare transplant-related disorders Rare gastroenterologic diseases Chronic intestinal pseudoobstruction ORPHA:2978 Vereniging Ziekte van Hirschsprung P 123 U 511 Rare gastroenterologic diseases Chronic intestinal pseudoobstruction ORPHA:2978 Vereniging Ziekte van Hirschsprung P 123 U 512 Rare hematologic diseases Immune thrombocytopenia ORPHA:3002 ITP vereniging P 79 U 1004 Rare hematologic diseases Immune thrombocytopenia ORPHA:3002 ITP vereniging P 79 U 1005 Rare neoplastic diseases Carcinoma of the ampulla of Vater ORPHA:300557 Alvleeskliervereniging (AVKV) P 87 U 2032 Rare gastroenterologic diseases Rare gastroenterologic diseases Carcinoma of the ampulla of Vater ORPHA:300557 Alvleeskliervereniging (AVKV) P 87 U 2034 Rare neoplastic diseases Rare neoplastic diseases Ampulla of Vater carcinoma ORPHA:300557 Alvleeskliervereniging (AVKV) P 87 U 2033 Rare neoplastic diseases Carcinoma of the ampulla of Vater ORPHA:300557 Living with Hope P 260 U 2029 Rare gastroenterologic diseases Rare gastroenterologic diseases Carcinoma of the ampulla of Vater ORPHA:300557 Living with Hope P 260 U 2031 Rare neoplastic diseases Rare neoplastic diseases Carcinoma of the ampulla of Vater ORPHA:300557 Living with Hope P 260 U 2030 Rare hematologic diseases Aggressive B-cell non-Hodgkin lymphoma ORPHA:300846 ST Hematon P 81 U 969 Rare neoplastic diseases Rare abdominal surgical diseases Caudal regression sequence ORPHA:3027 Maag Lever Darm ST P 105 U 649 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare hepatic diseases Isolated biliary atresia ORPHA:30391 NLse Leverpatiënten Vereniging (NLV) P 19 U 1673 Rare endocrine diseases Pituitary tumour ORPHA:304055 NLse Hypofyse ST (NHS) P 65 U 1134 Rare genetic diseases PTEN hamartoma tumor syndrome ORPHA:306498 ST PTEN België-NL P 95 U 710 Rare neoplastic diseases Rare neurological diseases Sodium channelopathy-related small fiber neuropathy ORPHA:306577 Spierziekten NL P 43 U 1450 Rare gastroenterologic diseases Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633 NFK-Patiëntenplatform zeldzame kankers P 18 U 1708 Rare neoplastic diseases Rare neoplastic diseases Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633 NFK-Patiëntenplatform zeldzame kankers P 18 U 1709 Rare gastroenterologic diseases Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633 NLse Leverpatiënten Vereniging (NLV) P 19 U 1674 Rare neoplastic diseases Rare neoplastic diseases Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633 NLse Leverpatiënten Vereniging (NLV) P 19 U 1675 Rare neoplastic diseases Rare tumor of liver and intrahepatic biliary tract ORPHA:306636 NFK-Patiëntenplatform zeldzame kankers P 18 U 1710 Rare neoplastic diseases Rare tumor of liver and intrahepatic biliary tract ORPHA:306636 NLse Leverpatiënten Vereniging (NLV) P 19 U 1676 Rare skin diseases Complication after organ transplantation ORPHA:306644 Huid NL P 161 U 284 Rare transplant-related disorders Rare disorders due to toxic effects Rare parkinsonian syndrome due to intoxication ORPHA:306679 ST OPS P 220 U 139 Rare disorders due to toxic effects Manganese poisoning ORPHA:306682 ST OPS P 220 U 140 Rare neurological diseases Rare tremor disorder ORPHA:306712 Contactgroep Orthostatische tremor P 242 U 122 Rare neurological diseases Rare choreic movement disorder ORPHA:306715 Dystonie Vereniging P 59 U 1229 Rare inborn errors of metabolism Epilepsy and/or ataxia with myoclonus as major feature ORPHA:306756 ADCA/Ataxie Vereniging NL P 1 U 1840 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Epilepsy and/or ataxia with myoclonus as major feature ORPHA:306756 Epilepsiefonds P 7 U 1802 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Hyperekplexia ORPHA:306773 Dystonie Vereniging P 59 U 1230 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A ORPHA:308386 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1313 Rare inborn errors of metabolism Disorder of fructose metabolism ORPHA:308463 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1314 Rare inborn errors of metabolism Disorder of galactose metabolism ORPHA:308467 Galactosemievereniging P 12 U 1779 Rare immunological diseases Mevalonate kinase deficiency ORPHA:309025 ST KAISZ P 135 U 391 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare genetic diseases Disorder of carnitine cysle and carnitine transport ORPHA:309130 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1315 Rare inborn errors of metabolism Rare inborn errors of metabolism Disorder of carnitine cysle and carnitine transport ORPHA:309130 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1316 Rare inborn errors of metabolism Glycoproteinosis ORPHA:309279 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1317 Rare hematologic diseases Disorder of iron metabolism and transport ORPHA:309842 Hemochromatose Vereniging NL (HVN) P 107 U 639 Rare inborn errors of metabolism Rare gastroenterologic diseases Gastric adenocarcinoma and proximal polyposis of the stomach ORPHA:314022 Zonder patiëntenorganisatie P nvt U 1182 Rare neoplastic diseases Rare bone diseases Ameloblastoma ORPHA:314419 Patiëntenvereniging Hoofd-Hals P 169 U 253 Rare odontological diseases Rare otorhinolaryngological diseases Rare surgical maxillo-facial diseases Rare neurological diseases Primary progressive apraxia of speech ORPHA:314566 Alzheimer NL P 2 U 1861 Rare neurological diseases Primary progressive apraxia of speech ORPHA:314566 FTD Lotgenoten P 9 U 1908 Rare genetic diseases Primary systemic amyloidosis ORPHA:314701 ST Amyloïdose NL P 138 U 379 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare genetic diseases Primary localized amyloidosis ORPHA:314709 ST Amyloïdose NL P 138 U 380 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare endocrine diseases Functioning pituitary adenoma ORPHA:314753 NLse Hypofyse ST (NHS) P 65 U 1135 Rare endocrine diseases SHOX-related short stature ORPHA:314795 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1812 Rare endocrine diseases SHOX-related short stature ORPHA:314795 Nlse Hypofyse ST (NHS) iom NVGG P 65 U 2054 Rare neurological diseases Malignant peripheral nerve sheath tumor ORPHA:3148 ST Patiëntenplatform Sarcomen P 94 U 721 Rare respiratory diseases Congenital pulmonary sequestration ORPHA:3161 Zonder patiëntenorganisatie P nvt U 537 Rare surgical thoracic diseases Rare respiratory diseases Hypersensitivity pneumonitis ORPHA:31740 Belangenvereniging Longfibrosepatiënten NL P 152 U 345 Rare bone diseases Skeletal Ewing sarcoma ORPHA:319 ST Patiëntenplatform Sarcomen P 94 U 722 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Skeletal Ewing sarcoma ORPHA:319 Vereniging Kinderkanker NL P 82 U 922 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare immunological diseases Autosomal dominant Mendelian susceptibility to mycobacterial diseases duORPHA:319581 ST voor Afweerstoornissen (SAS) P 72 U 1096 Rare genetic diseases Rare immunological diseases Autosomal dominant mendelian susceptibility to mycobacterial diseases duORPHA:319589 ST voor Afweerstoornissen (SAS) P 72 U 1097 Rare genetic diseases Rare immunological diseases Autoinflammatory syndrome of childhood ORPHA:319719 ST KAISZ P 135 U 393 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Autoinflammatory syndrome of childhood ORPHA:319719 ST KAISZ P 135 U 392 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare neurological diseases Stiff person spectrum disorder ORPHA:3198 Nlse Meningitis Stichting P 118 U 1975 Rare neurological diseases Stiff person spectrum disorder ORPHA:3198 Spierziekten NL P 43 U 1451 Rare bone diseases Multiple osteochondromas ORPHA:321 HME-MO Vereniging NL P 15 U 1765 Rare bone diseases Multiple osteochondromas ORPHA:321 HME-MO Vereniging NL P 15 U 1764 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Multiple osteochondromas ORPHA:321 Vereniging Kinderkanker NL P 82 U 924 Rare bone diseases Multiple osteochondromas ORPHA:321 Vereniging Kinderkanker NL P 82 U 923 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare developmental anomalies during Exstrophy-epispadias complex ORPHA:322 Nierpatiënten Vereniging NL (NVN) P 31 U 1565 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare neoplastic diseases Multiple paragangliomas associated with polycythemia ORPHA:324299 Bijniervereniging (NVACP) P 64 U 1159 Rare otorhinolaryngological diseases Rare neoplastic diseases Multiple paragangliomas associated with polycythemia ORPHA:324299 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1640 Rare otorhinolaryngological diseases Rare immunological diseases Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyel ORPHA:324964 ST KAISZ P 135 U 394 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare endocrine diseases 46,XY disorder of sex development of endocrine origin ORPHA:325351 DSD NL P 70 U 1107 Rare urogenital diseases Rare cardiac diseases Takayasu arteritis ORPHA:3287 Nierpatiënten Vereniging NL (NVN) P 31 U 1566 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare cardiac diseases Takayasu arteritis ORPHA:3287 Vasculitis ST P 51 U 1392 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare neurological diseases Juvenile idiopathic inflammatory myopathy ORPHA:329888 Spierziekten NL P 43 U 1453 Rare immunological diseases Juvenile idiopathic inflammatory myopathy ORPHA:329888 Spierziekten NL P 43 U 1452 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare genetic diseases C3 glomerulonephritis ORPHA:329931 Nierpatiënten Vereniging NL (NVN) P 31 U 1567 Rare renal diseases Rare genetic diseases Wild type ATTR amyloidosis ORPHA:330001 ST Amyloïdose NL P 138 U 381 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare disorders due to toxic effects Lead poisoning ORPHA:330015 ST OPS P 220 U 141 Rare disorders due to toxic effects Mercury poisoning ORPHA:330021 ST OPS P 220 U 142 Rare neurological diseases Dravet syndrome ORPHA:33069 Epilepsiefonds P 7 U 1803 Rare hematologic diseases Congenital amegakaryocytic thrombocytopenia ORPHA:3319 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1045 Rare respiratory diseases Idiopathic Hypersomnia ORPHA:33208 Narcolepsie Vereniging NL (NVN) P 210 U 174 Rare neurological diseases Idiopathic hypersomnia ORPHA:33208 Narcolepsie Vereniging NL (NVN) P 210 U 173 Rare hematologic diseases Waldenström macroglobulinemia ORPHA:33226 ST Hematon P 81 U 970 Rare transplant-related disorders Rare genetic diseases Trichothiodystrophy ORPHA:33364 ST Amy and Friends P 319 U 2005 Rare neurological diseases Rare genetic diseases Trichothiodystrophy ORPHA:33364 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1318 Rare neurological diseases Rare respiratory diseases Tracheal agenesis ORPHA:3346 Zonder patiëntenorganisatie P nvt U 538 Rare surgical thoracic diseases Rare infectious diseases Meningococcal meningitis ORPHA:33475 Nlse Meningitis Stichting P 118 U 587 Rare neurological diseases Kleine-Levin syndrome ORPHA:33543 Zonder patiëntenorganisatie P nvt U 157 Rare bone diseases Fibrodysplasia Ossificans Progressiva ORPHA:337 FOP ST NL P 162 U 266 Rare neurological diseases Neural tube defect ORPHA:3388 Syringomyelie Patiënten Vereniging (SPV) P 177 U 218 Rare infectious diseases Tuberculosis ORPHA:3389 Zonder patiëntenorganisatie P nvt U 539 Rare infectious diseases Tuberculosis ORPHA:3389 Zonder patiëntenorganisatie P nvt U 540 Rare respiratory diseases Rare bone diseases Soft tissue sarcoma ORPHA:3394 ST Patiëntenplatform Sarcomen P 94 U 723 Rare neoplastic diseases Rare neoplastic diseases Soft tissue sarcoma ORPHA:3394 ST Patiëntenplatform Sarcomen P 94 U 726 Rare neoplastic diseases Soft tissue sarcoma ORPHA:3394 ST Patiëntenplatform Sarcomen P 94 U 725 Rare neoplastic diseases soft tissue sarcoma ORPHA:3394 ST Patiëntenplatform Sarcomen P 94 U 724 Rare neoplastic diseases Soft tissue sarcoma ORPHA:3394 ST Patiëntenplatform Sarcomen P 94 U 728 Rare bone diseases Soft tissue sarcoma ORPHA:3394 ST Patiëntenplatform Sarcomen P 94 U 727 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Soft tissue sarcoma ORPHA:3394 Vereniging Kinderkanker NL P 82 U 925 Rare neoplastic diseases Rare neoplastic diseases Soft tissue sarcoma ORPHA:3394 Vereniging Kinderkanker NL P 82 U 928 Rare neoplastic diseases Soft tissue sarcoma ORPHA:3394 Vereniging Kinderkanker NL P 82 U 927 Rare neoplastic diseases soft tissue sarcoma ORPHA:3394 Vereniging Kinderkanker NL P 82 U 926 Rare neoplastic diseases Soft tissue sarcoma ORPHA:3394 Vereniging Kinderkanker NL P 82 U 930 Rare bone diseases Soft tissue sarcoma ORPHA:3394 Vereniging Kinderkanker NL P 82 U 929 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare neoplastic diseases Germ cell tumor ORPHA:3399 ST Zaadbalkanker P 226 U 1882 Rare neoplastic diseases Germ cell tumor ORPHA:3399 Vereniging Kinderkanker NL P 82 U 931 Rare infectious diseases Viral hemorrhagic fever ORPHA:341 Zonder patiëntenorganisatie P nvt U nvt Rare infectious diseases Viral hemorrhagic fever ORPHA:341 Zonder patiëntenorganisatie P nvt U nvt Rare genetic diseases Autosomal dominant tubulointerstitial kidney disease ORPHA:34149 Nierpatiënten Vereniging NL (NVN) P 31 U 1568 Rare hepatic diseases Rare renal diseases Rare infectious diseases Arbovirus fever ORPHA:344 Nlse Meningitis Stichting P 118 U 589 Rare infectious diseases Arbovirus fever ORPHA:344 Nlse Meningitis Stichting P 118 U 588 Rare inborn errors of metabolism glycogen storage disease due LAMP2 deficiency ORPHA:34587 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1319 Rare neurological diseases Rare inborn errors of metabolism Fructose-1,6-biphosphatasedeficiency ORPHA:348 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1320 Rare gastroenterologic diseases Fulminant viral hepatitis ORPHA:35063 NLse Leverpatiënten Vereniging (NLV) P 19 U 1677 Rare inborn errors of metabolism Galactosemia ORPHA:352 Galactosemievereniging P 12 U 1780 Rare developmental anomalies during Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490 NLse Vereniging voor Autisme P 26 U 1647 embryogenesis Rare genetic diseases Rare surgical thoracic diseases Arterial thoracic outlet syndrome ORPHA:357107 Harteraad P 58 U 1888 Rare surgical thoracic diseases Arterial thoracic outlet syndrome ORPHA:357107 RSI-vereniging P 305 U 7 Rare surgical thoracic diseases Venous thoracic outlet syndrome ORPHA:357131 Harteraad P 58 U 1889 Rare surgical thoracic diseases Venous thoracic outlet syndrome ORPHA:357131 RSI-vereniging P 305 U 8 Rare renal diseases Idiopathic nephrotic syndrome ORPHA:357502 Nierpatiënten Vereniging NL (NVN) P 31 U 1569 Rare renal diseases Idiopathic Nephrotic Syndrome ORPHA:357502 Nierpatiënten Vereniging NL (NVN) P 31 U 1570 Rare urogenital diseases Rare gastroenterologic diseases Gastric linitis plastica ORPHA:36273 Zonder patiëntenorganisatie P nvt U 1183 Rare neoplastic diseases Rare genetic diseases Genetic intestinal polyposis ORPHA:363314 ST Lynch Polyposis P 93 U 770 Rare neoplastic diseases Rare neoplastic diseases Tumor of testis and paratestis ORPHA:363472 ST Zaadbalkanker P 226 U 136 Rare urogenital diseases Rare urogenital diseases Tumor of testis and paratestis ORPHA:363472 ST Zaadbalkanker P 226 U 135 Rare neoplastic diseases Non-seminomatous germ cell tumor of testis ORPHA:363494 ST Zaadbalkanker P 226 U 1883 Rare neoplastic diseases Non-seminomatous germ cell tumor of testis ORPHA:363494 Vereniging Kinderkanker NL P 82 U 932 Rare neoplastic diseases Germ cell tumor of testis ORPHA:363504 ST Zaadbalkanker P 226 U 1884 Rare neoplastic diseases Germ cell tumor of testis ORPHA:363504 ST Zaadbalkanker P 226 U 1885 Rare neoplastic diseases Germ cell tumor of testis ORPHA:363504 Vereniging Kinderkanker NL P 82 U 933 Rare neoplastic diseases Germ cell tumor of testis ORPHA:363504 Vereniging Kinderkanker NL P 82 U 934 Rare neoplastic diseases Extragonadal germ cell tumor ORPHA:363579 ST Zaadbalkanker P 226 U 1886 Rare neoplastic diseases Extragonadal germ cell tumor ORPHA:363579 Vereniging Kinderkanker NL P 82 U 935 Rare neurological diseases Paraneoplastic neurologic syndrome ORPHA:36388 Nlse Meningitis Stichting P 118 U 1973 Rare neurological diseases Paraneoplastic neurologic syndrome ORPHA:36388 Spierziekten NL P 43 U 1454 Rare bone diseases Primary bone dysplasia ORPHA:364526 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1813 Rare bone diseases Primary bone dysplasia ORPHA:364526 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1814 Rare endocrine diseases Rare bone diseases Primary bone dysplasia ORPHA:364526 NLse Vereniging van Rugpatiënten 'de Wervelkolom' (NVRR) P 172 U 224 Rare bone diseases Primary bone dysplasia ORPHA:364526 NLse Vereniging van Rugpatiënten 'de Wervelkolom' (NVRR) P 172 U 225 Rare endocrine diseases Rare bone diseases Primary bone dysplasia ORPHA:364526 Patiëntenvereniging Fibreuze Dysplasie P 246 U 1915 Rare bone diseases Primary bone dysplasia ORPHA:364526 Patiëntenvereniging Fibreuze Dysplasie P 246 U 1916 Rare endocrine diseases Rare bone diseases Primary bone dysplasia ORPHA:364526 Vereniging MED-SED P 154 U 334 Rare bone diseases Primary bone dysplasia ORPHA:364526 Vereniging MED-SED P 154 U 335 Rare endocrine diseases Rare bone diseases Primary bone dysplasia ORPHA:364526 Vereniging Ostegenesis Imperfecta (VOI) P 53 U 1947 Rare bone diseases Primary bone dysplasia ORPHA:364526 Vereniging Ostegenesis Imperfecta (VOI) P 53 U 1948 Rare endocrine diseases Rare bone diseases Dysostosis ORPHA:364559 LaPosa P 17 U 1752 Rare bone diseases Dysostosis ORPHA:364559 Vereniging Kinderkanker NL P 82 U 936 Rare inborn errors of metabolism Glycogen storage disease due to acid maltase deficiency ORPHA:365 Spierziekten NL P 43 U 1870 Rare neurological diseases Rare inborn errors of metabolism Glycogen storage disease due to acid maltase deficiency ORPHA:365 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1321 Rare neurological diseases Rare abdominal surgical diseases Primary short bowel syndrome ORPHA:365563 Crohn & Colitis NL P 119 U 581 Rare gastroenterologic diseases Rare transplant-related disorders Rare inborn errors of metabolism Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1322 Rare inborn errors of metabolism Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1323 Rare inborn errors of metabolism Myoclonus-dystonia syndrome ORPHA:36899 Dystonie Vereniging P 59 U 1231 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism GSD due to liver glycogen phosphorylase deficiency ORPHA:369 NLse Leverpatiënten Vereniging (NLV) P 19 U 1678 Rare neoplastic diseases Interstitial cystitis ORPHA:37202 Interstitiële Cystitis Patiëntenverening (ICP) P 173 U 223 Rare urogenital diseases Rare systemic and rheumatological diseases Anti-glomerular basement membrane disease ORPHA:375 Vasculitits ST P 51 U 1393 Rare immunological diseases

Rare inborn errors of metabolism Generalized isolated dystonia ORPHA:376724 Dystonie Vereniging P 59 U 1232 Rare genetic diseases Rare neurological diseases Rare genetic diseases Gorlin syndrome ORPHA:377 Vereniging voor Ectodermale Dysplasie (VVED) P 55 U 1931 Rare skin diseases Rare immunological diseases Schnitzler syndrome ORPHA:37748 ST KAISZ P 135 U 395 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare inborn errors of metabolism Neurodegeneration with brain iron accumulation ORPHA:385 Alzheimer NL P 2 U 1830 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Neurodegeneration with brain iron accumulation ORPHA:385 Kans voor PKAN-kinderen P 289 U 51 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Neurodegeneration with brain iron accumulation ORPHA:385 ST IJzersterk P 189 U 212 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Neurodegeneration with brain iron accumulation ORPHA:385 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1324 Rare genetic diseases Rare neurological diseases Rare abdominal surgical diseases Hirschsprung disease ORPHA:388 Vereniging Ziekte van Hirschsprung P 123 U 513 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare gastroenterologic diseases Hirschsprung disease ORPHA:388 Vereniging Ziekte van Hirschsprung P 123 U 515 Rare gastroenterologic diseases Hirschsprung disease ORPHA:388 Vereniging Ziekte van Hirschsprung P 123 U 514 Rare gastroenterologic diseases Hirschsprung disease ORPHA:388 Vereniging Ziekte van Hirschsprung P 123 U 516 Rare abdominal surgical diseases Rare systemic and rheumatological diseases Langerhans cell histiocytosis ORPHA:389 ST Celhistiose NL P 46 U 1417

Rare infectious diseases Histoplasmosis ORPHA:390 Huid NL P 161 U 286 Rare neoplastic diseases Uveal melanoma ORPHA:39044 NFK-Patiëntenplatform zeldzame kankers P 18 U 1712 Rare ophthalmic disorders Uveal melanoma ORPHA:39044 NFK-Patiëntenplatform zeldzame kankers P 18 U 1711 Rare neoplastic diseases Uveal melanoma ORPHA:39044 ST Melanoom P 96 U 707 Rare ophthalmic disorders Uveal melanoma ORPHA:39044 ST Melanoom P 96 U 706 Rare bone diseases X-linked osteoporosis with fractures ORPHA:391330 NLse Vereniging van Rugpatiënten 'de Wervelkolom' (NVRR) P 172 U 226 Rare neoplastic diseases Glomus tumor ORPHA:391651 Zonder patiëntenorganisatie P nvt U 1641 Rare neurological diseases Off-periods in Parkinson disease not responding to oral treatment ORPHA:391655 Parkinson Vereniging NL P 35 U 1521 Rare gastroenterologic diseases Necrotizing enterocolitis ORPHA:391673 Care4neo P 114 U 1920 Rare gastroenterologic diseases Necrotizing enterocolitis ORPHA:391673 Care4neo P 114 U 1918 Rare gastroenterologic diseases Necrotizing enterocolitis ORPHA:391673 Care4neo P 114 U 1919 Rare renal diseases Classic homocystinuria ORPHA:394 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1325 Rare urogenital diseases Rare inborn errors of metabolism Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529 Spierziekten NL P 43 U 1455 Rare inborn errors of metabolism Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532 Spierziekten NL P 43 U 1456 Rare urogenital diseases Malignant tumor of penis ORPHA:398043 NFK-Patiëntenplatform zeldzame kankers P 18 U 1713 Rare endocrine diseases Prader-Willi-like syndrome ORPHA:398073 Prader-Willi ST P 236 U 130 Rare hematologic diseases Graft versus host disease ORPHA:39812 ST Hematon P 81 U 973 Rare transplant-related disorders Rare hematologic diseases Graft versus host disease ORPHA:39812 ST Hematon P 81 U 971 Rare hematologic diseases Graft versus host disease ORPHA:39812 ST Hematon P 81 U 972 Rare immunological diseases Rare transplant-related disorders Rare gynecologic and obstetric diseases Malignant epithelial tumor of ovary ORPHA:398934 ST Olijf P 88 U 876 Rare gynecologic and obstetric diseases Malignant epithelial tumor of ovary ORPHA:398934 ST Olijf P 88 U 875 Rare gynecologic and obstetric diseases Malignant non-epithelial tumor of ovary ORPHA:398940 ST Olijf P 88 U 877 Rare neurological diseases Huntington disease ORPHA:399 Vereniging van Huntington P 16 U 1761 Rare neurological diseases Huntington disease ORPHA:399 Vereniging van Huntington P 16 U 1762 Rare inborn errors of metabolism Huntington disease ORPHA:399 Vereniging van Huntington P 16 U 1760 Rare genetic diseases Rare neurological diseases Rare infertility disorders Rare genetic male infertility ORPHA:399980 Freya P 110 U 627 Rare infertility disorders Rare genetic male infertility ORPHA:399980 NLse Klinefelter Vereniging P 117 U 595 Rare genetic diseases Familial atypical multiple mole melanoma syndrome ORPHA:404560 ST Melanoom P 96 U 708 Rare neoplastic diseases Rare skin diseases Rare immunological diseases Polyarticular juvenile idiopathic arthritis ORPHA:404580 Jeugdreuma Vereniging NL P 134 U 418 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare infectious diseases Pulmonary non-tubercolosous mycobacterial infection ORPHA:411703 Zonder patiëntenorganisatie P nvt U 541 Rare endocrine diseases Dysbetalipoproteinemia ORPHA:412 Harteraad P 58 U 1263 Rare neurological diseases PRKAR1B-related neurodegenerative dementia with intermediate filamentsORPHA:412066 Alzheimer NL P 2 U 1831 Rare inborn errors of metabolism Gyrate atrophy of choroid and retina ORPHA:414 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1327 Rare inborn errors of metabolism Gyrate atrophy of choroid and retina ORPHA:414 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1326 Rare neurological diseases Bilirubin encephalopathy ORPHA:415286 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1328 Rare renal diseases Primary Hyperoxaluria ORPHA:416 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1329 Rare endocrine diseases Congenital adrenal hyperplasia ORPHA:418 Bijniervereniging (NVACP) P 64 U 1160 Rare endocrine diseases Congenital adrenal hyperplasia Orpha:418 Bijniervereniging (NVACP) P 64 U 1161 Rare neoplastic diseases Rare urogenital diseases Rare inborn errors of metabolism Medium chain acyl-CoA dehydrogenase deficiency ORPHA:42 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1330 Rare developmental anomalies during Malan overgrowth syndrome ORPHA:420179 Zeldsamen P 290 U 39 embryogenesis Rare neoplastic diseases Semicircular canal dehiscence syndrome ORPHA:420402 Zonder patiëntenorganisatie P nvt U nvt Rare otorhinolaryngological diseases Rare otorhinolaryngological diseases Semicircular canal dehiscence syndrome ORPHA:420402 Zonder patiëntenorganisatie P nvt U nvt Rare neurological diseases Visual Snow syndrome ORPHA:420556 Hoofdpijnnet P 32 U 1556 Rare neurological diseases Autoimmune encephalopathy with parasomnia and obstructive sleep apne ORPHA:420789 Apneuvereniging P 68 U 1212 Rare neurological diseases Autoimmune encephalopathy with parasomnia and obstructive sleep apne ORPHA:420789 Nlse Meningitis Stichting P 118 U 1976 Rare neurological diseases Rare autonomic nervous system disorder ORPHA:423662 Zonder patiëntenorganisatie P nvt U 159 Rare gastroenterologic diseases Hereditary gastric cancer ORPHA:423776 Zonder patiëntenorganisatie P nvt U 1185 Rare neoplastic diseases Rare genetic diseases Heriditary gastric cancer ORPHA:423776 Zonder patiëntenorganisatie P nvt U 1184 Rare neoplastic diseases Rare gastroenterologic diseases Rare carcinoma of small intestine ORPHA:423957 ST Darmkanker P 304 U 13 Rare neoplastic diseases Rare neoplastic diseases Epithelial tumor of the appendix ORPHA:423982 Zonder patiëntenorganisatie P nvt U 1186 Rare neoplastic diseases Squamous cell carcinoma of the colon ORPHA:423994 Zonder patiëntenorganisatie P nvt U 1187 Rare neoplastic diseases Squamous cell carcinoma of the rectum ORPHA:424002 ST Darmkamker P 304 U 14 Rare neoplastic diseases Epithelial tumor of anal canal ORPHA:424010 NFK-Patiëntenplatform zeldzame kankers P 18 U 1714 Rare neoplastic diseases Carcinoma of the anal canal ORPHA:424013 NFK-Patiëntenplatform zeldzame kankers P 18 U 1715 Rare gynecologic and obstetric diseases Inherited digestive cancer-predisposing syndrome ORPHA:425003 P 105 U 650 Rare neoplastic diseases Maag Lever Darm ST Rare respiratory diseases Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomORPHA:431353 ST Pulmonale Hypertensie P 158 U 2020 Rare gynecologic and obstetric diseases Fetal lower urinary tract obstruction ORPHA:435365 Nierpatiënten Vereniging NL (NVN) P 31 U 1571 Rare bone diseases Hypophosphatemic Rickets ORPHA:437 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1331 Rare gynecologic and obstetric diseases Placental insufficiency ORPHA:439167 Care4Neo P 114 U 614 Rare circulatory system diseases Placental insufficiency ORPHA:439167 Care4Neo P 114 U 613 Rare gynecologic and obstetric diseases Rare gynecologic and obstetric diseases Placental insufficiency ORPHA:439167 Hellp St P 113 U 2051 Rare circulatory system diseases Placental insufficiency ORPHA:439167 Hellp ST P 113 U 2050 Rare gynecologic and obstetric diseases Rare neurological diseases Pediatric arterial ischemic stroke ORPHA:439175 Hersenletsel.nl P 91 U 1909 Rare neurological diseases Non-recovering obstetric brachial plexus lesion ORPHA:439202 Erbse Parese Vereniging NL P 8 U 1790 Rare genetic diseases Familial colorectal cancer type X ORPHA:440437 ST Lynch Polyposis P 93 U 771 Rare neoplastic diseases Rare neurological diseases Pure autonomic failure ORPHA:441 Zonder patiëntenorganisatie P nvt U 161 Rare neurological diseases Hemicrania continua ORPHA:443070 Hoofdpijnnet P 32 U 1557 Rare ophthalmic disorders Central serous chorioretinopathy ORPHA:443079 Oogvereniging P 100 U 676 Rare gynecologic and obstetric diseases Postpartum Psychose ORPHA:443173 Me Mam P 215 U 169 Rare genetic diseases Hereditary nonpolyposis colon cancer ORPHA:443909 ST Lynch Polyposis P 93 U 772 Rare gastroenterologic diseases Rare genetic diseases Hereditary amyloidosis ORPHA:444116 ST Amyloïdose NL P 138 U 382 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare systemic and rheumatological diseases Secondary vasculitis ORPHA:445197 Vasculitits ST P 51 U 1394 Rare immunological diseases

Rare hematologic diseases Paroxysmal nocturnal hemoglobinuria ORPHA:447 ST AA & PNH P 104 U 660 Rare hepatic diseases IgG4-related sclerosing cholangitis ORPHA:447764 NLse Leverpatiënten Vereniging (NLV) P 19 U 1679 Rare inborn errors of metabolism Cerebral visual impairment ORPHA:447788 Oogvereniging P 100 U 677 Rare hematologic diseases Hemophilia ORPHA:448 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1049 Rare hematologic diseases Hemophilia ORPHA:448 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1050 Rare hematologic diseases Hemophilia ORPHA:448 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1046 Rare hematologic diseases Hemophilia ORPHA:448 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1051 Rare hematologic diseases Hemophilia ORPHA:448 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1047 Rare hematologic diseases Hemophilia ORPHA:448 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1048 Rare neoplastic diseases Gastrointestinal stromal tumor ORPHA:44890 ST Patiëntenplatform Sarcomen P 94 U 731 Rare neoplastic diseases Gastrointestinal stromal tumor ORPHA:44890 ST Patiëntenplatform Sarcomen P 94 U 732 Rare gastroenterologic diseases Gastrointestinal stromal tumor ORPHA:44890 ST Patiëntenplatform Sarcomen P 94 U 730 Rare neoplastic diseases Rare neoplastic diseases Gastrointestinal stromal tumor ORPHA:44890 ST Patiëntenplatform Sarcomen P 94 U 729 Rare bone diseases Gastrointestinal stromal tumor ORPHA:44890 ST Patiëntenplatform Sarcomen P 94 U 733 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare allergic disease Pleural empyema ORPHA:449266 Zonder patiëntenorganisatie P nvt U 542 Rare respiratory diseases Rare systemic and rheumatological diseases IgG4-related pachymeningitis ORPHA:449427 Nlse Meningitis Stichting P 118 U 590

Rare systemic and rheumatological diseases IgG4-related pachymeningitis ORPHA:449427 ST voor Afweerstoornissen (SAS) P 72 U 1098

Rare immunological diseases IgG4-related ophthalmic disease ORPHA:449563 Oogvereniging P 100 U 679 Rare hematologic diseases Plasma cell leukemia ORPHA:454714 ST Hematon P 81 U 974 Rare immunological diseases Rare transplant-related disorders Rare abdominal surgical diseases Isolated tracheoesophageal fistula ORPHA:454750 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 500 Rare genetic diseases Rare neurological diseases Corticobasal syndrome ORPHA:454887 Alzheimer NL P 2 U 1832 Rare neurological diseases Corticobasal syndrome ORPHA:454887 Parkinson Vereniging NL P 35 U 1873 Rare bone diseases Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059 Nierpatiënten Vereniging NL (NVN) P 31 U 1572 Rare endocrine diseases Rare circulatory system diseases Idiopathic spontaneous coronary artery dissection ORPHA:458718 Contactgroep Marfan NL P 147 U 2021 Rare developmental anomalies during embryogenesis Rare cardiac diseases Rare Vascular Malformation of major vessels ORPHA:458844 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 484 Rare cardiac malformations Rare circulatory system diseases Rare surgical thoracic diseases Rare cardiac diseases Rare vascular malformation of major vessels ORPHA:458844 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 483 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare endocrine diseases Gender dysphoria ORPHA:459690 DSD NL P 70 U 1108 Rare urogenital diseases Rare hematologic diseases Primary central nervous system lymphoma ORPHA:46135 ST Hematon P 81 U 975 Rare transplant-related disorders Rare neurological diseases DYRK1A-related intellectual disability syndrome ORPHA:464306 Zeldsamen P 290 U 40 Rare developmental anomalies during embryogenesis Rare immunological diseases Euthyroid Graves orbitopathy ORPHA:466682 Oogvereniging P 100 U 680 Rare immunological diseases Euthyroid Graves orbitopathy ORPHA:466682 Schildklier Organisatie NL (SON) P 60 U 1223 Rare circulatory system diseases Cerebral arteriovenous malformation ORPHA:46724 CMTC-OVM P 92 U 800 Rare neurological diseases Rare neurological diseases Cerebral arteriovenous malformation ORPHA:46724 CMTC-OVM P 92 U 801 Rare circulatory system diseases Cerebral arteriovenous malformation ORPHA:46724 HEVAS P 131 U 453 Rare neurological diseases Rare neurological diseases Cerebral arteriovenous malformation ORPHA:46724 HEVAS P 131 U 454 Rare inborn errors of metabolism Hereditary fructose intolerance ORPHA:469 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1332 Rare immunological diseases X-linked agammaglobulinemia ORPHA:47 ST voor Afweerstoornissen (SAS) P 72 U 1099 Rare genetic diseases Rare neurological diseases Pediatric Multiple Sclerosis ORPHA:477738 MS Vereniging NL P 21 U 1652 Rare genetic diseases Genetic cerebral small vessel disease ORPHA:477754 Vereniging HCHWA-D P 14 U 1773 Rare neurological diseases Rare circulatory system diseases Moyamoya angiopathy ORPHA:477768 Hersenletsel.nl P 91 U 1910 Rare genetic diseases Rare neurological diseases Rare circulatory system diseases Rare disorder with a moyamoya angiopathy ORPHA:477771 Hersenletsel.nl P 91 U 1911 Rare genetic diseases Rare neurological diseases Rare developmental anomalies during Primary condylar hyperplasia ORPHA:477781 LaPosa P 17 U 1753 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare cardiac diseases Genetic cardiac malformation ORPHA:477805 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 485 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare hepatic diseases Choledochal cyst ORPHA:480501 NLse Leverpatiënten Vereniging (NLV) P 19 U 1680 Rare bone diseases Aneurysmal bone cyst ORPHA:480553 Vereniging Kinderkanker NL P 82 U 937 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare genetic diseases HTRA1-related autosomal dominant cerebral small vessel disease ORPHA:482077 Alzheimer NL P 2 U 1833 Rare neurological diseases Rare endocrine diseases Genetic non-acquired premature ovarian failure ORPHA:485382 Freya P 110 U 628 Rare gynecologic and obstetric diseases Rare endocrine diseases Genetic non-acquired premature ovarian failure ORPHA:485382 ST POI-POF P 312 U 1865 Rare gynecologic and obstetric diseases Rare developmental anomalies during Monosomy 22q13.3 (Phelan-McDermid syndrome) ORPHA:48652 Zeldsamen P 290 U 41 embryogenesis Rare genetic diseases Rare immunological diseases IgG4-related retroperitoneal fibrosis ORPHA:49041 ST RPF NL P 280 U 76 Rare gynecologic and obstetric diseases Vulvar carcinoma ORPHA:494418 ST Olijf P 88 U 878 Rare gynecologic and obstetric diseases Vulvar carcinoma ORPHA:494418 ST Olijf P 88 U 879 Rare abdominal surgical diseases Sacrococcygeal teratoma ORPHA:494421 Vereniging Kinderkanker NL P 82 U 938 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare gastroenterologic diseases Sacrococcygeal teratoma ORPHA:494421 Vereniging Kinderkanker NL P 82 U 939 Rare gastroenterologic diseases Sacrococcygeal teratoma ORPHA:494421 Vereniging Kinderkanker NL P 82 U 940 Rare abdominal surgical diseases Rare gynecologic and obstetric diseases Vulvar squamous cell carcinoma ORPHA:494448 ST Olijf P 88 U 880 Rare gynecologic and obstetric diseases Vulvar squamous cell carcinoma ORPHA:494448 ST Olijf P 88 U 881 Rare neurological diseases Rare hyperkinetic movement disorder ORPHA:494457 Spierziekten NL P 43 U 1457 Rare neoplastic diseases Squamous cell carcinoma of the hypopharynx ORPHA:494547 Patiëntenvereniging Hoofd-Hals P 169 U 254 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Squamous cell carcinoma of the larynx ORPHA:494550 Patiëntenvereniging Hoofd-Hals P 169 U 256 Rare otorhinolaryngological diseases Rare neoplastic diseases Squamous cell carcinoma of the larynx ORPHA:494550 Patiëntenvereniging Hoofd-Hals P 169 U 255 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare infectious diseases Tuberculous meningitis ORPHA:499004 Nlse Meningitis Stichting P 118 U 591 Rare neurological diseases Chronic relapsing inflammatory optic neuropathy ORPHA:499085 Oogvereniging P 100 U 681 Rare immunological diseases Rare ophthalmic disorders Rare neurological diseases SIN3A-related intellectual disability syndrome/Witteveen-Kolk syndrome ORPHA:500163 Zeldsamen P 290 U 42 Rare developmental anomalies during embryogenesis Rare neoplastic diseases Squamous cell carcinoma of the nasal cavity and paranasal sinuses ORPHA:500464 Patiëntenvereniging Hoofd-Hals P 169 U 257 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Squamous cell carcinoma of the oropharynx ORPHA:500478 Patiëntenvereniging Hoofd-Hals P 169 U 259 Rare otorhinolaryngological diseases Rare neoplastic diseases Squamous cell carcinoma of the oropharynx ORPHA:500478 Patiëntenvereniging Hoofd-Hals P 169 U 258 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare developmental anomalies during Cochleovestibular dysplasia ORPHA:502305 ST Hoormij P 33 U 1541 embryogenesis Rare otorhinolaryngological diseases Rare developmental anomalies during Cochlear nerve deficiency ORPHA:502318 ST Hoormij P 33 U 1542 embryogenesis Rare otorhinolaryngological diseases Rare neoplastic diseases Squamous cell carcinoma of oral cavity and lip ORPHA:502369 Patiëntenvereniging Hoofd-Hals P 169 U 261 Rare otorhinolaryngological diseases Rare neoplastic diseases Squamous cell carcinoma of oral cavity and lip ORPHA:502369 Patiëntenvereniging Hoofd-Hals P 169 U 260 Rare odontological diseases Rare bone diseases Rare otorhinolaryngological diseases Rare skin diseases Rare surgical maxillo-facial diseases Rare neoplastic diseases Pleural mesothelioma ORPHA:50251 Asbestslachtoffers Vereniging NL (AVN) P 109 U 634 Rare neoplastic diseases Pleural mesothelioma ORPHA:50251 Asbestslachtoffers Vereniging NL (AVN) P 109 U 635 Rare respiratory diseases Rare bone diseases Neuroendocrine neoplasms of the pancreas ORPHA:506052 Alvleeskliervereniging (AVKV) P 87 U 892 Rare endocrine diseases Rare bone diseases Neuroendocrine neoplasms of the pancreas ORPHA:506052 Living with hope P 260 U 97 Rare endocrine diseases Rare bone diseases Neuroendocrine neoplasms of the pancreas ORPHA:506052 ST NET-groep P 62 U 1862 Rare endocrine diseases Rare developmental anomalies during Rare disorder potentially indicated for kidney transplant ORPHA:506213 Nierpatiënten Vereniging NL (NVN) P 31 U 1573 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Rare disorder potentially indicated for kidney transplant ORPHA:506213 Nierpatiënten Vereniging NL (NVN) P 31 U 1574 Rare genetic diseases Rare disorder potentially indicated for lung transplant ORPHA:506222 ST Pulmonale Hypertensie P 158 U 2009 Rare respiratory diseases Rare transplant-related disorders Rare infectious diseases Leishmaniasis ORPHA:507 Huid NL P 161 U 287 Rare infectious diseases Leptospirosis ORPHA:509 Nlse Meningitis Stichting P 118 U 592 Rare hematologic diseases Acute lymphoblastic leukemia ORPHA:513 ST Hematon P 81 U 976 Rare transplant-related disorders Rare hematologic diseases Acute lymphoblastic leukemia ORPHA:513 ST Hematon P 81 U 978 Rare immunological diseases Rare transplant-related disorders Rare hematologic diseases Acute lymphoblastic leukemia ORPHA:513 ST Hematon P 81 U 977 Rare neoplastic diseases Rare neurological diseases Anterior cutaneous nerve entrapment syndrome ORPHA:51890 ACNES Foundation P 296 U 21 Rare neurological diseases Anterior cutaneous nerve entrapment syndrome ORPHA:51890 ACNES Foundation P 296 U 22 Rare neurological diseases Anterior cutaneous nerve entrapment syndrome ORPHA:51890 ST ACNES P 295 U 23 Rare neurological diseases Anterior cutaneous nerve entrapment syndrome ORPHA:51890 ST ACNES P 295 U 24 Rare hematologic diseases Acute myeloid leukemia ORPHA:519 ST Hematon P 81 U 979 Rare transplant-related disorders Rare hematologic diseases Acute myeloid leukemia ORPHA:519 ST Hematon P 81 U 981 Rare hematologic diseases Acute myeloid leukemia ORPHA:519 ST Hematon P 81 U 982 Rare immunological diseases Rare transplant-related disorders Rare hematologic diseases Acute myeloid leukemia ORPHA:519 ST Hematon P 81 U 980 Rare neoplastic diseases Rare genetic diseases Infective keratitis ORPHA:519278 Oogvereniging P 100 U 682 Rare ophthalmic disorders Rare ophthalmic disorders Isolated chorioretinal dystrophy ORPHA:519300 Oogvereniging P 100 U 683 Rare genetic diseases Rare choroidal disorder ORPHA:519309 Oogvereniging P 100 U 684 Rare ophthalmic disorders Rare ophthalmic disorders Rare retinal disorder ORPHA:519315 Macula Vereniging (MD) P 125 U 491 Rare genetic diseases Rare retinal disorder ORPHA:519315 Macula Vereniging (MD) P 125 U 490 Rare ophthalmic disorders Rare ophthalmic disorders Rare retinal disorder ORPHA:519315 Oogvereniging - Patiëntengroep Retina P 100 U 686 Rare genetic diseases Rare retinal disorder ORPHA:519315 Oogvereniging - Patiëntengroep Retina P 100 U 685 Rare ophthalmic disorders Rare cardiac diseases Alagille syndrome ORPHA:52 NLse Leverpatiënten Vereniging (NLV) P 19 U 1681 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare gastroenterologic diseases Alagille syndrome ORPHA:52 NLse Leverpatiënten Vereniging (NLV) P 19 U 1682 Rare genetic diseases Rare hematologic diseases Chronic myeloid leukemia ORPHA:521 ST Hematon P 81 U 983 Rare neoplastic diseases Rare neoplastic diseases Chronic myeloid leukemia ORPHA:521 ST Hematon P 81 U 984 Rare genetic diseases Li-Fraumeni syndrome ORPHA:524 ST Diagnose Kanker (SDK) P 183 U 213 Rare neoplastic diseases Rare cardiac diseases MALT lymphoma ORPHA:52417 ST Hematon P 81 U 985 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders Rare cardiac diseases MALT lymphoma ORPHA:52417 Vereniging Kinderkanker NL P 82 U 941 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare neurological diseases Prepubertal anorexia nervosa ORPHA:525738 Weet: ST rond eetstoornissen P 221 U 137 Rare hematologic diseases Myelodysplastic syndrome ORPHA:52688 ST Hematon P 81 U 987 Rare hematologic diseases Myelodysplastic syndrome ORPHA:52688 ST Hematon P 81 U 986 Rare neoplastic diseases Rare systemic and rheumatological diseases Vasculitis ORPHA:52759 Vasculitits ST P 51 U 1398 Rare immunological diseases

Rare immunological diseases Vasculitis ORPHA:52759 Vasculitits ST P 51 U 1396 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare systemic and rheumatological diseases Vasculitis ORPHA:52759 Vasculitits ST P 51 U 1397

Rare cardiac diseases Vasculitis ORPHA:52759 Vasculitits ST P 51 U 1395 Rare circulatory system diseases Rare immunological diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare urogenital diseases

Rare cardiac diseases Systemic lupus erythematosus ORPHA:536 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 464 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders Rare renal diseases Systemic lupus erythematosus ORPHA:536 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 466 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare systemic and rheumatological diseases Systemic lupus erythematosus ORPHA:536 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 467 Rare immunological diseases

Rare immunological diseases Systemic lupus erythematosus ORPHA:536 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 465 Rare systemic and rheumatological diseases

Rare cardiac diseases Systemic lupus erythematosus ORPHA:536 Nierpatiënten Vereniging NL (NVN) P 31 U 1575 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare renal diseases Systemic lupus erythematosus ORPHA:536 Nierpatiënten Vereniging NL (NVN) P 31 U 1577 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare systemic and rheumatological diseases Systemic lupus erythematosus ORPHA:536 Nierpatiënten Vereniging NL (NVN) P 31 U 1578 Rare immunological diseases

Rare immunological diseases Systemic lupus erythematosus ORPHA:536 Nierpatiënten Vereniging NL (NVN) P 31 U 1576 Rare systemic and rheumatological diseases

Rare neurological diseases Rasopathies ORPHA:536391 Neurofibromatosevereniging NL (NFVN) P 30 U 1628 Rare developmental anomalies during embryogenesis Rare genetic diseases Rasopathies ORPHA:536391 Neurofibromatosevereniging NL (NFVN) P 30 U 1627 Rare neurological diseases Rare neurological diseases Rasopathies ORPHA:536391 ST Noonan Syndroom P 47 U 1410 Rare developmental anomalies during embryogenesis Rare genetic diseases Rasopathies ORPHA:536391 ST Noonan Syndroom P 47 U 1409 Rare neurological diseases Rare inborn errors of metabolism Growth delay-intellectual disability-hepatopathy syndrome ORPHA:541423 NLse Leverpatiënten Vereniging (NLV) P 19 U 1683 Rare hematologic diseases Primary cutaneous lymphoma ORPHA:542 NFK-Patiëntenplatform zeldzame kankers P 18 U 1716 Rare skin diseases Rare hematologic diseases Primary cutaneous lymphoma ORPHA:542 ST Hematon P 81 U 1964 Rare skin diseases Rare hematologic diseases Primary cutaneous lymphoma ORPHA:542 ST Huidlymfoom P 311 U 1853 Rare skin diseases Rare hematologic diseases CAR T cell therapy-associated cytokine release syndrome ORPHA:542323 ST Hematon P 81 U 988 Rare immunological diseases Rare transplant-related disorders Rare cardiac diseases Left ventricular noncompaction ORPHA:54260 Harteraad P 58 U 1274 Rare circulatory system diseases Rare genetic diseases Rare hepatic diseases Hepatocellular adenoma ORPHA:54272 NLse Leverpatiënten Vereniging (NLV) P 19 U 1684 Rare hematologic diseases Diffuse large B-cell lymphoma ORPHA:544 ST Hematon P 81 U 989 Rare immunological diseases Rare transplant-related disorders Rare systemic and rheumatological diseases Hemolytic uremic syndrome ORPHA:544458 Nierpatiënten Vereniging NL (NVN) P 31 U 1579 Rare immunological diseases

Rare endocrine diseases Craniopharyngioma ORPHA:54595 NLse Hypofyse ST (NHS) P 65 U 1136 Rare endocrine diseases Craniopharyngioma ORPHA:54595 Vereniging Kinderkanker NL P 82 U 942 Rare hematologic diseases Non Hodgkin Lymphoma ORPHA:547 ST Hematon P 81 U 990 Rare transplant-related disorders Rare infectious diseases Leprosy ORPHA:548 Huid NL P 161 U 288 Rare skin diseases Rare endocrine diseases Cushing syndrome ORPHA:553 Bijniervereniging (NVACP) P 64 U 1162 Rare neoplastic diseases Rare urogenital diseases Rare hepatic diseases Lymphoplasmacytic inflammatory pseudotumor of the liver ORPHA:555437 NLse Leverpatiënten Vereniging (NLV) P 19 U 1685 Rare infectious diseases Pneumococcal meningitis ORPHA:55655 Nlse Meningitis Stichting P 118 U 593 Rare abdominal surgical diseases Isolated anorectal malformation ORPHA:557 Vereniging Anusatresie P 120 U 560 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare cardiac diseases Marfan syndrome ORPHA:558 Contactgroep Marfan NL P 147 U 357 Rare circulatory system diseases Rare genetic diseases Rare bone diseases Marfan syndrome ORPHA:558 Contactgroep Marfan NL P 147 U 356 Rare circulatory system diseases Rare developmental anomalies during embryogenesis Rare genetic diseases Rare ophthalmic disorders Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare circulatory system diseases Marfan syndrome ORPHA:558 Contactgroep Marfan NL P 147 U 358 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Idiopathic gastroparesis ORPHA:558411 Maag Lever Darm ST P 105 U 651 Rare bone diseases Chondrosarcoma ORPHA:55880 ST Patiëntenplatform Sarcomen P 94 U 735 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Chondrosarcoma ORPHA:55880 Vereniging Kinderkanker NL P 82 U 943 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Adamantinoma ORPHA:55881 ST Patiëntenplatform Sarcomen P 94 U 1936 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Adamantinoma ORPHA:55881 Vereniging Kinderkanker NL P 82 U 944 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare gastroenterologic diseases Carcinoma of gallbladder and extrahepatic biliary tract ORPHA:56044 NLse Leverpatiënten Vereniging (NLV) P 19 U 1686 Rare neoplastic diseases Rare hepatic diseases Carcinoma of gallbladder and extrahepatic biliary tract ORPHA:56044 NLse Leverpatiënten Vereniging (NLV) P 19 U 1687 Rare neoplastic diseases Rare transplant-related disorders Rare developmental anomalies during Marshall-Smith syndrome ORPHA:561 Marshall Smith Syndroom Research Foundation P 146 U 362 embryogenesis Rare hepatic diseases Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hORPHA:562639 NLse Leverpatiënten Vereniging (NLV) P 19 U 1688 Rare cardiac diseases Peripartum cardiomyopathy ORPHA:563 Harteraad P 58 U 1275 Rare circulatory system diseases Rare genetic diseases Rare developmental anomalies during Genetic nephrotic syndrome ORPHA:564127 Nierpatiënten Vereniging NL (NVN) P 31 U 1580 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare cardiac diseases 22q11.2 deletion syndrome ORPHA:567 ST Steun 22q11 P 271 U 88 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare developmental anomalies during 22q11.2 deletion syndrome ORPHA:567 ST Steun 22q11 P 271 U 89 embryogenesis Rare genetic diseases Rare renal diseases Disorder with multisystemic involvement and glomerulopathy ORPHA:567562 Nierpatiënten Vereniging NL (NVN) P 31 U 1581 Rare renal diseases Nephrotic Syndrome without extrarenal manifestations ORPHA:567564 Nierpatiënten Vereniging NL (NVN) P 31 U 1582 Rare abdominal surgical diseases Parental nutrition associated cholestasis ORPHA:567983 NLse Leverpatiënten Vereniging (NLV) P 19 U 1689 Rare gastroenterologic diseases Rare transplant-related disorders Rare circulatory system diseases Primary lymphedema without systemic or visceral involvement ORPHA:568041 CMTC-OVM P 92 U 802 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Primary lymphedema without systemic or visceral involvement ORPHA:568041 HEVAS P 131 U 455 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Primary lymphedema without systemic or visceral involvement ORPHA:568041 NL Net P 142 U 370 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Primary lymphedema with systemic or visceral involvement ORPHA:568044 NL Net P 142 U 371 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Disorder with multisystemic involvement and primary lymphedema ORPHA:568047 NL Net P 142 U 372 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare neurological diseases Familial or sporadic hemiplegic migraine ORPHA:569 Hoofdpijnnet P 32 U 1558 Rare inborn errors of metabolism Galactose mutarotase deficiency ORPHA:570422 Galactosemievereniging P 12 U 1781 Rare cardiac diseases Infective endocarditis ORPHA:570762 Harteraad P 58 U 1276 Rare infectious diseases Rare neurological diseases SUNCT-syndrome ORPHA:57145 Hoofdpijnnet P 32 U 1559 Rare endocrine diseases Pheochromocytoma-paraganglioma ORPHA:573163 Bijniervereniging (NVACP) P 64 U 1163 Rare endocrine diseases Pheochromocytoma-paraganglioma ORPHA:573163 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1642 Rare genetic diseases Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553 Alzheimer NL P 2 U 1834 Rare neurological diseases Rare infectious diseases Middle East respiratory syndrome ORPHA:576074 Zonder patiëntenorganisatie P nvt U 544 Rare infectious diseases Middle East respiratory syndrome ORPHA:576074 Zonder patiëntenorganisatie P nvt U 543 Rare allergic disease Cystic fibrosis ORPHA:586 NLse Cystic Fibrosis ST (NCFS) P 159 U 307 Rare respiratory diseases Rare gastroenterologic diseases Cystic fibrosis ORPHA:586 NLse Cystic Fibrosis ST (NCFS) P 159 U 308 Rare respiratory diseases Rare hepatic diseases Cystic fibrosis ORPHA:586 NLse Cystic Fibrosis ST (NCFS) P 159 U 309 Rare respiratory diseases Rare respiratory diseases Cystic Fibrosis ORPHA:586 NLse Cystic Fibrosis ST (NCFS) P 159 U 310 Rare respiratory diseases Cystic Fibrosis ORPHA:586 NLse Cystic Fibrosis ST (NCFS) P 159 U 311 Rare neurological diseases Myasthenia gravis ORPHA:589 Spierziekten NL P 43 U 1458 Rare neurological diseases Myasthenia gravis ORPHA:589 Spierziekten NL P 43 U 1459 Rare immunological diseases Rare ophthalmic disorders Rare developmental anomalies during Congenital myastenic syndrome ORPHA:590 Spierziekten NL P 43 U 1460 embryogenesis Rare genetic diseases Rare neurological diseases Rare developmental anomalies during Menke-Hennekam syndrome ORPHA:592574 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1815 embryogenesis Rare developmental anomalies during Menke-Hennekam syndrome ORPHA:592574 Zeldsamen P 290 U 43 embryogenesis Rare respiratory diseases Alpha-1-antitrypsin deficiency ORPHA:60 Longfonds P 121 U 545 Rare hepatic diseases Rare skin diseases Rare cardiac diseases Loeys-Dietz syndrome ORPHA:60030 Contactgroep Marfan NL P 147 U 359 Rare circulatory system diseases Rare genetic diseases Rare circulatory system diseases Loeys-Dietz syndrome ORPHA:60030 Contactgroep Marfan NL P 147 U 360 Rare developmental anomalies during embryogenesis Rare developmental anomalies during Recurrent Respiratory Papillomatosis ORPHA:60032 Zonder patiëntenorganisatie P nvt U 546 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare respiratory diseases Idiopathic bronchiectasis ORPHA:60033 Longfonds P 121 U 547 Rare respiratory diseases Idiopathic bronchiectasis ORPHA:60033 Longfonds P 121 U 548 Rare neurological diseases Pudendal neuralgia ORPHA:60039 Bekkenbodem4all P 205 U 189 Rare neurological diseases Inclusion body myositis ORPHA:611 Spierziekten NL P 43 U 1461 Rare neoplastic diseases Medulloblastoma ORPHA:616 P 91 U 819 Rare bone diseases Rare neurological diseases Rare ophthalmic disorders Rare otorhinolaryngological diseases Hersenletsel.nl Rare genetic diseases Familial melanoma ORPHA:618 ST Melanoom P 96 U 709 Rare neoplastic diseases Rare skin diseases Rare genetic diseases Large congenital melanocytic nevus ORPHA:626 Nevus Netwerk P 141 U 376 Rare skin diseases Rare developmental anomalies during Alport syndrome ORPHA:63 Nierpatiënten Vereniging NL (NVN) P 31 U 1583 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare endocrine diseases Non-acquired isolated growth hormone deficiency ORPHA:631 Nlse Hypofyse ST (NHS) iom NVGG P 65 U 2046 Rare endocrine diseases Non-acquired isolated growth hormone deficiency ORPHA:631 NVGG - Nlse vereniging voor groeihoormoondeficiëntie en groeihormoonbehandeling P 194 U 209 Rare neoplastic diseases Neurofibromatosis type 1 ORPHA:636 Neurofibromatosevereniging NL (NFVN) P 30 U 1629 Rare genetic diseases Neurofibromatosis type 1 ORPHA:636 Neurofibromatosevereniging NL (NFVN) P 30 U 1631 Rare neurological diseases Rare endocrine diseases Neurofibromatosis type 1 ORPHA:636 Neurofibromatosevereniging NL (NFVN) P 30 U 1630 Rare neoplastic diseases Neurofibromatosis type 2 ORPHA:637 Neurofibromatosevereniging NL (NFVN) P 30 U 1633 Rare otorhinolaryngological diseases Rare neoplastic diseases Neurofibromatosis type 2 ORPHA:637 Neurofibromatosevereniging NL (NFVN) P 30 U 1632 Rare neurological diseases Multifocal motor neuropathy ORPHA:641 Spierziekten NL P 43 U 1462 Rare cardiac diseases Noonan syndrome ORPHA:648 ST Noonan Syndroom P 47 U 1411 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare endocrine diseases Multiple endocrine neoplasia type 1 ORPHA:652 Belangengroep MEN P 69 U 1116 Rare endocrine diseases Multiple endocrine neoplasia type 1 ORPHA:652 Belangengroep MEN P 69 U 1117 Rare endocrine diseases Multiple endocrine neoplasia type 1 ORPHA:652 Belangengroep MEN P 69 U 1115 Rare neoplastic diseases Rare urogenital diseases Rare endocrine diseases Multiple endocrine neoplasia type 2 ORPHA:653 Belangengroep MEN P 69 U 1118 Rare endocrine diseases Multiple endocrine neoplasia type 2 ORPHA:653 Belangengroep MEN P 69 U 1119 Rare developmental anomalies during Nephronophthisis ORPHA:655 Nierpatiënten Vereniging NL (NVN) P 31 U 1584 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare gastroenterologic diseases Benign recurrent intrahepatic cholestasis ORPHA:65682 NLse Leverpatiënten Vereniging (NLV) P 19 U 1691 Rare genetic diseases Rare hepatic diseases Benign recurrent intrahepatic cholestasis ORPHA:65682 NLse Leverpatiënten Vereniging (NLV) P 19 U 1692 Rare allergic disease Non-histaminic angioedema ORPHA:658 Vereniging voor angio oedeem P 84 U 894 Rare hematologic diseases Rare abdominal surgical diseases Omphalocele ORPHA:660 Maag Lever Darm ST P 105 U 652 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare bone diseases Osteogenesis imperfecta ORPHA:666 Vereniging Ostegenesis Imperfecta (VOI) P 53 U 1377 Rare bone diseases Osteogenesis imperfecta ORPHA:666 Vereniging Ostegenesis Imperfecta (VOI) P 53 U 1378 Rare allergic disease Cutaneous mastocytosis ORPHA:66646 Mastocytosevereniging NL P 83 U 897 Rare hematologic diseases Rare allergic disease Mast cell sarcoma ORPHA:66661 Mastocytosevereniging NL P 83 U 898 Rare hematologic diseases Rare bone diseases Osteosarcoma ORPHA:668 ST Patiëntenplatform Sarcomen P 94 U 736 Rare neoplastic diseases Rare bone diseases Osteosarcoma ORPHA:668 ST Patiëntenplatform Sarcomen P 94 U 737 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Osteosarcoma ORPHA:668 Vereniging Kinderkanker NL P 82 U 945 Rare neoplastic diseases Rare bone diseases Osteosarcoma ORPHA:668 Vereniging Kinderkanker NL P 82 U 946 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare hematologic diseases B-cell chronic lymphocytic leukemia ORPHA:67038 ST Hematon P 81 U 991 Rare transplant-related disorders Rare neoplastic diseases B-cell chronic lymphocytic leukemia ORPHA:67038 ST Hematon P 81 U 992 Rare infectious diseases Malaria ORPHA:673 Zonder patiëntenorganisatie P nvt U nvt Rare infectious diseases Malaria ORPHA:673 Zonder patiëntenorganisatie P nvt U nvt Rare developmental anomalies during Rare chromosomal anomaly ORPHA:68335 ST Down Syndroom (SDS) P 71 U 1103 embryogenesis Rare developmental anomalies during Rare chromosomal anomaly ORPHA:68335 XXX-Contactgroep Triple-X Syndroom P 178 U 214 embryogenesis Rare developmental anomalies during Rare chromosomal anomaly ORPHA:68335 Zeldsamen P 290 U 44 embryogenesis Rare developmental anomalies during Rare chromosomal anomaly ORPHA:68335 Zeldsamen P 290 U 45 embryogenesis Rare genetic diseases Rare developmental anomalies during Multiple congenital anomalies/dysmorphic syndrome ORPHA:68341 Zeldsamen P 290 U 46 embryogenesis Rare genetic diseases Rare developmental anomalies during Rare genetic skin disease ORPHA:68346 Huid NL P 161 U 289 embryogenesis Rare genetic diseases Rare skin diseases Rare genetic diseases Rare genetic skin disease ORPHA:68346 Huid NL P 161 U 290 Rare skin diseases Rare hematologic diseases Tumor of hematopoietic and lymphoid tissues ORPHA:68347 ST Hematon P 81 U 993 Rare neoplastic diseases Rare neurological diseases Rare sleep disorder ORPHA:68354 Narcolepsie Vereniging NL (NVN) P 210 U 175 Rare neurological diseases Leukodystrophies ORPHA:68356 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1333 Rare otorhinolaryngological diseases Rare deafness ORPHA:68361 Federatie van ouders van dove kinderen (FODOK) P 209 U 180 Rare developmental anomalies during Rare deafness ORPHA:68361 Federatie van ouders van dove kinderen (FODOK) P 209 U 178 embryogenesis Rare otorhinolaryngological diseases Rare otorhinolaryngological diseases Rare deafness ORPHA:68361 Federatie van ouders van dove kinderen (FODOK) P 209 U 179 Rare otorhinolaryngological diseases Rare deafness ORPHA:68361 NLse Federatie van Ouders van Slechthorende kinderen en van kinderen met Spraak- P 321 U 2025 Rare developmental anomalies during Rare deafness ORPHA:68361 NLse Federatie van Ouders van Slechthorende kinderen en van kinderen met Spraak- P 321 U 2023 embryogenesis Rare otorhinolaryngological diseases Rare otorhinolaryngological diseases Rare deafness ORPHA:68361 NLse Federatie van Ouders van Slechthorende kinderen en van kinderen met Spraak- P 321 U 2024 Rare otorhinolaryngological diseases Rare deafness ORPHA:68361 ST Hoormij P 33 U 1545 Rare developmental anomalies during Rare deafness ORPHA:68361 ST Hoormij P 33 U 1543 embryogenesis Rare otorhinolaryngological diseases Rare otorhinolaryngological diseases Rare deafness ORPHA:68361 ST Hoormij P 33 U 1544 Rare neurological diseases Rare dystonia ORPHA:68363 Dystonie Vereniging P 59 U 1235 Rare neurological diseases Rare dystonia ORPHA:68363 Dystonie Vereniging P 59 U 1233 Rare neurological diseases Rare dystonia ORPHA:68363 Dystonie Vereniging P 59 U 1234 Rare hematologic diseases Hemoglobinopathy ORPHA:68364 OSCAR Nederland P 73 U 1074 Rare hematologic diseases Hemoglobinopathy ORPHA:68364 OSCAR Nederland P 73 U 1071 Rare hematologic diseases Hemoglobinopathy ORPHA:68364 OSCAR Nederland P 73 U 1073 Rare hematologic diseases Hemoglobinopathy ORPHA:68364 OSCAR Nederland P 73 U 1072 Rare inborn errors of metabolism Lysosomal disease ORPHA:68366 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1336 Rare inborn errors of metabolism Lysosomal disease ORPHA:68366 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1335 Rare inborn errors of metabolism Lysosomal disease ORPHA:68366 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1334 Rare genetic diseases Rare inborn errors of metabolism ORPHA:68367 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1337 Rare inborn errors of metabolism Rare inborn errors of metabolism Rare inborn errors of metabolism ORPHA:68367 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1339 Rare inborn errors of metabolism Rare inborn errors of metabolism ORPHA:68367 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1338 Rare inborn errors of metabolism Peroxisomal disease ORPHA:68373 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1340 Rare bone diseases Congenital limb malformation ORPHA:68378 Handvereniging P 13 U 1777 Rare developmental anomalies during embryogenesis Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Belangenvereniging LOA/LHON P 274 U 1942 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Belangenvereniging LOA/LHON P 274 U 1943 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Cure ADOA Foundation P 281 U 1949 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Cure ADOA Foundation P 281 U 1950 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Spierziekten NL P 43 U 1871 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Spierziekten NL P 43 U 1872 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 ST Nemo P 199 U 1951 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 ST Nemo P 199 U 1952 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1341 Rare inborn errors of metabolism Mitochondrial disease ORPHA:68380 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1342 Rare neurological diseases Neuromuscular disease ORPHA:68381 Spierziekten NL P 43 U 1467 Rare neurological diseases Neuromuscular disease ORPHA:68381 Spierziekten NL P 43 U 1464 Rare neurological diseases Neuromuscular disease ORPHA:68381 Spierziekten NL P 43 U 1466 Rare neurological diseases Neuromuscular disease ORPHA:68381 Spierziekten NL P 43 U 1465 Rare neurological diseases Neuromuscular disease ORPHA:68381 Spierziekten NL P 43 U 1468 Rare neurological diseases Neuromuscular disease ORPHA:68381 Spierziekten NL P 43 U 1463 Rare hematologic diseases Rare constitutional aplastic anemia ORPHA:68383 ST AA & PNH P 104 U 661 Rare hematologic diseases Rare constitutional aplastic anemia ORPHA:68383 ST AA & PNH P 104 U 662 Rare immunological diseases Rare inborn errors of metabolism Neurometabolic disease ORPHA:68385 Spierziekten NL P 43 U 1469 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Neurometabolic disease ORPHA:68385 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1343 Rare genetic diseases Rare neurological diseases Rare neurological diseases Rare parkinsonian disorders ORPHA:68402 Parkinson Vereniging NL P 35 U 1522 Rare neoplastic diseases Rare bone tumor ORPHA:68411 HME-MO Vereniging NL P 15 U 1769 Rare bone diseases Rare bone tumor ORPHA:68411 HME-MO Vereniging NL P 15 U 1770 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare neoplastic diseases Rare bone tumor ORPHA:68411 ST Patiëntenplatform Sarcomen P 94 U 738 Rare bone diseases Rare bone tumor ORPHA:68411 ST Patiëntenplatform Sarcomen P 94 U 739 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare neoplastic diseases Rare bone tumor ORPHA:68411 Vereniging Kinderkanker NL P 82 U 947 Rare bone diseases Rare bone tumor ORPHA:68411 Vereniging Kinderkanker NL P 82 U 948 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare bone diseases Rare parathyroid disease and phosphocalcic metabolism anomaly ORPHA:68415 Zonder patiëntenorganisatie P nvt U 1224 Rare endocrine diseases Rare skin diseases Vascualar anomaly or angioma ORPHA:68419 CMTC-OVM P 92 U 803 Rare skin diseases Vascualar anomaly or angioma ORPHA:68419 HEVAS P 131 U 456 Rare neurological diseases Hereditary spastic paraplegia ORPHA:685 Spierziekten NL P 43 U 1471 Rare neurological diseases Hereditary spastic paraplegia ORPHA:685 Spierziekten NL P 43 U 1470 Rare neurological diseases Hereditary spastic paraplegia ORPHA:685 Spierziekten NL P 43 U 1472 Rare genetic diseases Amyloidosis ORPHA:69 ST Amyloïdose NL P 138 U 383 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare skin diseases Pyogenic Arthritis-pyoderma gangrenosum-acne syndrome ORPHA:69126 ST voor Afweerstoornissen (SAS) P 72 U 1100 Rare hepatic diseases Intrahepatic cholestasis of pregnancy ORPHA:69665 NLse Leverpatiënten Vereniging (NLV) P 19 U 1694 Rare gynecologic and obstetric diseases Intrahepatic cholestasis of pregnancy ORPHA:69665 NLse Leverpatiënten Vereniging (NLV) P 19 U 1693 Rare hepatic diseases Rare neurological diseases Proximal spinal muscular atrophy ORPHA:70 Spierziekten NL P 43 U 1473 Rare abdominal surgical diseases Radiation proctitis ORPHA:70475 Maag Lever Darm ST P 105 U 653 Rare gastroenterologic diseases Rare abdominal surgical diseases Radiation proctitis ORPHA:70475 ST Darmkanker P 304 U 1881 Rare gastroenterologic diseases Rare gastroenterologic diseases Carcinoma of esophagus ORPHA:70482 Zonder patiëntenorganisatie P nvt U 1195 Rare neoplastic diseases Rare gastroenterologic diseases Cholangiocarcinoma ORPHA:70567 NFK-Patiëntenplatform zeldzame kankers P 18 U 1718 Rare neoplastic diseases Rare hepatic diseases Cholangiocarcinoma ORPHA:70567 NFK-Patiëntenplatform zeldzame kankers P 18 U 1717 Rare neoplastic diseases Rare transplant-related disorders Rare gastroenterologic diseases Cholangiocarcinoma ORPHA:70567 NLse Leverpatiënten Vereniging (NLV) P 19 U 1696 Rare neoplastic diseases Rare hepatic diseases Cholangiocarcinoma ORPHA:70567 NLse Leverpatiënten Vereniging (NLV) P 19 U 1695 Rare neoplastic diseases Rare transplant-related disorders Rare neoplastic diseases Small cell lung cancer ORPHA:70573 Longkankervereniging P 204 U 192 Rare respiratory diseases Rare neoplastic diseases Small cell lung cancer ORPHA:70573 Longkankervereniging P 204 U 193 Rare respiratory diseases Rare allergic disease Bronchopulmonary dysplasia ORPHA:70589 Care4Neo P 114 U 2006 Rare respiratory diseases Rare respiratory diseases Bronchopulmonary dysplasia ORPHA:70589 Care4Neo P 114 U 2007 Rare respiratory diseases Bronchopulmonary dysplasia ORPHA:70589 Care4Neo P 114 U 2008 Rare respiratory diseases Chronic thromboembolic pulmonary hypertension ORPHA:70591 ST Pulmonale Hypertensie P 158 U 1851 Rare respiratory diseases Chronic thromboembolic pulmonary hypertension ORPHA:70591 ST Pulmonale Hypertensie P 158 U 1850 Rare respiratory diseases Rare pulmonary hypertension ORPHA:71198 ST Pulmonale Hypertensie P 158 U 333 Rare respiratory diseases Rare pulmonary hypertension ORPHA:71198 ST Pulmonale Hypertensie P 158 U 331 Rare respiratory diseases Rare pulmonary hypertension ORPHA:71198 ST Pulmonale Hypertensie P 158 U 332 Rare respiratory diseases Rare pulmonary hypertension ORPHA:71198 ST Pulmonale Hypertensie P 158 U 330 Rare genetic diseases Rare pulmonary hypertension ORPHA:71198 ST Pulmonale Hypertensie P 158 U 329 Rare respiratory diseases Rare transplant-related disorders Rare hematologic diseases Rare hemorrhagic disorder due to a constitutional platelet anomaly ORPHA:71202 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1052 Rare hematologic diseases Autoimmune thrombocytopenia ORPHA:71203 ITP vereniging P 79 U 1006 Rare neoplastic diseases Rare soft tissue tumor ORPHA:71209 ST Patiëntenplatform Sarcomen P 94 U 740 Rare neoplastic diseases Rare soft tissue tumor ORPHA:71209 ST Patiëntenplatform Sarcomen P 94 U 741 Rare neoplastic diseases Rare soft tissue tumor ORPHA:71209 ST Patiëntenplatform Sarcomen P 94 U 742 Rare bone diseases Rare soft tissue tumor ORPHA:71209 ST Patiëntenplatform Sarcomen P 94 U 743 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare neoplastic diseases Rare soft tissue tumor ORPHA:71209 Vereniging Kinderkanker NL P 82 U 949 Rare neoplastic diseases Rare soft tissue tumor ORPHA:71209 Vereniging Kinderkanker NL P 82 U 950 Rare neoplastic diseases Rare soft tissue tumor ORPHA:71209 Vereniging Kinderkanker NL P 82 U 951 Rare bone diseases Rare soft tissue tumor ORPHA:71209 Vereniging Kinderkanker NL P 82 U 952 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare neurological diseases Neuromyelitis optica spectrum disorder ORPHA:71211 MS Vereniging NL P 21 U 1967 Rare neurological diseases Neuromyelitis optica spectrum disorder ORPHA:71211 MS Vereniging NL P 21 U 1968 Rare immunological diseases Rare ophthalmic disorders Rare neurological diseases Neuromyelitis optica spectrum disorder ORPHA:71211 Oogvereniging P 100 U 687 Rare neurological diseases Neuromyelitis optica spectrum disorder ORPHA:71211 Oogvereniging P 100 U 688 Rare immunological diseases Rare ophthalmic disorders Rare inborn errors of metabolism Classic glucose transporter type 1 deficiency syndrome ORPHA:71277 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1344 Rare inborn errors of metabolism Psychogenic movement disorders ORPHA:71519 Dystonie Vereniging P 59 U 1236 Rare genetic diseases Rare neurological diseases Rare inborn errors of metabolism Phenylketonuria ORPHA:716 PKU Vereniging NL P 37 U 1517 Rare inborn errors of metabolism Phenylketonuria ORPHA:716 PKU Vereniging NL P 37 U 1518 Rare developmental anomalies during Isolated Pierre Robin syndrome ORPHA:718 ST Pierre Robin Europe P 279 U 80 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Isolated Pierre Robin Syndrome ORPHA:718 ST Pierre Robin Europe P 279 U 81 Rare surgical maxillo-facial diseases Rare sucking/swallowing disorders Isolated Pierre Robin syndrome ORPHA:718 ST Pierre Robin Europe P 279 U 82 Rare surgical maxillo-facial diseases Rare ophthalmic disorders Inherited retinal disorder ORPHA:71862 Macula Vereniging (MD) P 125 U 494 Rare genetic diseases Inherited retinal disorder ORPHA:71862 Macula Vereniging (MD) P 125 U 492 Rare ophthalmic disorders Rare inborn errors of metabolism Inherited retinal disorder ORPHA:71862 Macula Vereniging (MD) P 125 U 493 Rare ophthalmic disorders Inherited retinal disorder ORPHA:71862 Oogvereniging P 100 U 691 Rare genetic diseases Inherited retinal disorder ORPHA:71862 Oogvereniging P 100 U 689 Rare ophthalmic disorders Rare inborn errors of metabolism Inherited retinal disorder ORPHA:71862 Oogvereniging P 100 U 690 Rare neurological diseases Muscular channelopathy ORPHA:71864 Spierziekten NL P 43 U 1474 Rare genetic diseases Angelman syndrome ORPHA:72 Vereniging Angelman Syndroom NL P 3 U 1820 Rare neurological diseases Rare neurological diseases Continuous spikes and waves during sleep ORPHA:725 Epilepsiefonds P 7 U 1804 Rare systemic and rheumatological diseases Microscopic polyangiitis ORPHA:727 Nierpatiënten Vereniging NL (NVN) P 31 U 1585 Rare immunological diseases

Rare systemic and rheumatological diseases Microscopic polyangiitis ORPHA:727 Vasculitits ST P 51 U 1399 Rare immunological diseases

Rare renal diseases Autosomal dominant polycystic kidney disease ORPHA:730 Nierpatiënten Vereniging NL (NVN) P 31 U 1587 Rare genetic diseases Autosomal dominant polycystic kidney disease ORPHA:730 Nierpatiënten Vereniging NL (NVN) P 31 U 1586 Rare hepatic diseases Rare renal diseases Rare gastroenterologic diseases Intractable diarrhea of infancy ORPHA:73014 Maag Lever Darm ST P 105 U 655 Rare genetic diseases Rare gastroenterologic diseases Intractable diarrhea of infancy ORPHA:73014 Maag Lever Darm ST P 105 U 654 Rare genetic diseases Autosomal recessive polycystic kidney disease ORPHA:731 Nierpatiënten Vereniging NL (NVN) P 31 U 1588 Rare hepatic diseases Rare renal diseases Rare immunological diseases Polymyositis ORPHA:732 Spierziekten NL P 43 U 1475 Rare systemic and rheumatological diseases

Rare genetic diseases Familial adenomatous polyposis ORPHA:733 ST Lynch Polyposis P 93 U 774 Rare gastroenterologic diseases Rare gastroenterologic diseases Familial adenomatous polyposis ORPHA:733 ST Lynch Polyposis P 93 U 776 Rare genetic diseases Rare neoplastic diseases Rare genetic diseases Familial adenomatous polyposis ORPHA:733 ST Lynch Polyposis P 93 U 775 Rare neoplastic diseases Rare gynecologic and obstetric diseases Familial adenomatous polyposis ORPHA:733 ST Lynch Polyposis P 93 U 773 Rare neoplastic diseases Rare genetic diseases Porphyria ORPHA:738 NLse Leverpatiënten Vereniging (NLV) P 19 U 1697 Rare hepatic diseases Rare inborn errors of metabolism Rare neurological diseases Rare renal diseases Rare skin diseases Rare genetic diseases Porphyria ORPHA:738 Patiëntenvereniging Acute Porfyrie P 300 U 20 Rare hepatic diseases Rare inborn errors of metabolism Rare neurological diseases Rare renal diseases Rare skin diseases Rare neurological diseases Prader-Willi syndrome ORPHA:739 Prader-Willi ST P 236 U 132 Rare developmental anomalies during embryogenesis Rare endocrine diseases Prader-Willi syndrome ORPHA:739 Prader-Willi ST P 236 U 131 Rare immunological diseases Mendelian susceptibility to mycobacterial diseases ORPHA:748 ST voor Afweerstoornissen (SAS) P 72 U 1101 Rare genetic diseases Rare infectious diseases Strongyloidiasis ORPHA:76 Zonder patiëntenorganisatie P nvt U nvt Rare hematologic diseases Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766 ST Zeldzame Bloedziekten - PKD Contactgroep P 75 U 1020 Rare cardiac diseases Familial long QT syndrome ORPHA:768 Harteraad P 58 U 1279 Rare infectious diseases Rabies ORPHA:770 Zonder patiëntenorganisatie P nvt U nvt Rare infectious diseases Rabies ORPHA:770 Zonder patiëntenorganisatie P nvt U nvt Rare circulatory system diseases Primary Lymphedema ORPHA:77240 NL Net P 142 U 373 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare skin diseases Rare circulatory system diseases Hereditary Hemorrhagic Telangiectasia ORPHA:774 Harteraad P 58 U 1280 Rare respiratory diseases Rare developmental anomalies during Rett Syndrome ORPHA:778 Nederlandse Rett Syndroom Vereniging P 166 U 265 embryogenesis Rare genetic diseases Rare endocrine diseases genetic obesity ORPHA:77828 Nederlandse ST Over Gewicht P 265 U 93 Rare genetic diseases Rare endocrine diseases genetic obesity ORPHA:77828 NL Net P 142 U 374 Rare genetic diseases Rare developmental anomalies during Rubinstein-Taybi syndrome ORPHA:783 ST Rubinstein-Taybi Syndroom P 48 U 1407 embryogenesis Rare neoplastic diseases Retinoblastoma ORPHA:790 Oogvereniging P 100 U 692 Rare ophthalmic disorders Rare inborn errors of metabolism Disorder of amino acid and other organic acid metabolism ORPHA:79062 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1345 Rare endocrine diseases Cutaneous neuroendocrine carcinoma ORPHA:79140 ST NET-Groep P 62 U 1203 Rare neoplastic diseases Rare skin diseases Rare neoplastic diseases Cutaneous neuroendocrine carcinoma ORPHA:79140 ST NET-Groep P 62 U 1205 Rare respiratory diseases Rare neoplastic diseases Cutaneous neuro-endocrine carcinoma ORPHA:79140 ST NET-Groep P 62 U 1204 Rare inborn errors of metabolism Disorder of urea cycle metabolism and ammonia detoxification ORPHA:79167 PKU Vereniging NL P 37 U 1519 Rare inborn errors of metabolism Disorder of urea cycle metabolism and ammonia detoxification ORPHA:79167 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1346 Rare inborn errors of metabolism Disorders of Neurotransmitter metabolism and transport ORPHA:79169 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1347 Rare inborn errors of metabolism Creatine deficiency syndrome ORPHA:79172 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1348 Rare genetic diseases Disorder of fatty acid oxidation and ketone body metabolism ORPHA:79174 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1349 Rare inborn errors of metabolism Rare inborn errors of metabolism Disorder of fatty acid oxidation and ketone body metabolism ORPHA:79174 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1350 Rare inborn errors of metabolism Disorder of fatty acid oxidation and ketone body metabolism ORPHA:79174 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1351 Rare inborn errors of metabolism Disorders of pyridoxine metabolism ORPHA:79192 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1353 Rare inborn errors of metabolism Disorders of pyridoxine metabolism ORPHA:79192 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1352 Rare inborn errors of metabolism Disorder of branched-chain amino acid metabolism ORPHA:79197 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1354 Rare inborn errors of metabolism Disorder of energy metabolism ORPHA:79200 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1355 Rare inborn errors of metabolism Glycogen storage disease ORPHA:79201 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1356 Rare inborn errors of metabolism Glycogen storage disease ORPHA:79201 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1357 Rare neurological diseases Rare inborn errors of metabolism Disorder of lysosomal amino acid transport ORPHA:79207 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1358 Rare inborn errors of metabolism Mucopolysaccharidosis ORPHA:79213 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1359 Rare genetic diseases Disorder of purine or pyrimidine metabolism ORPHA:79224 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1360 Rare inborn errors of metabolism Rare inborn errors of metabolism Sphingolipidosis ORPHA:79225 Zonder patiëntenorganisatie P nvt U 1785 Rare inborn errors of metabolism Galactokinase deficiency ORPHA:79237 Galactosemievereniging P 12 U 1782 Rare inborn errors of metabolism Galactose epimerase deficiency ORPHA:79238 Galactosemievereniging P 12 U 1783 Rare inborn errors of metabolism Classic galactosemia ORPHA:79239 Galactosemievereniging P 12 U 1784 Rare inborn errors of metabolism Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1361 Rare inborn errors of metabolism Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1362 Rare inborn errors of metabolism Juvenile neuronal ceroid lipofuscinosis ORPHA:79264 Alzheimer NL P 2 U 1835 Rare inborn errors of metabolism Juvenile neuronal ceroid lipofuscinosis ORPHA:79264 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1363 Rare genetic diseases 3-phosphoserine phosphatase deficiency, infantile/juvenile form ORPHA:79350 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1364 Rare inborn errors of metabolism Rare genetic diseases 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form ORPHA:79351 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1365 Rare inborn errors of metabolism Rare skin diseases Ichthyosis ORPHA:79354 Vereniging voor Ichthyosisnetwerken P 237 U 128 Rare genetic diseases Ichthyosis ORPHA:79354 Vereniging voor Ichthyosisnetwerken P 237 U 127 Rare skin diseases Rare genetic diseases Erythrokeratoderma ORPHA:79355 Huid NL P 161 U 293 Rare skin diseases Rare developmental anomalies during Hereditary palmoplantar keratoderma ORPHA:79357 Huid NL P 161 U 294 embryogenesis Rare genetic diseases Rare skin diseases Rare genetic diseases Hereditary palmoplantar keratoderma ORPHA:79357 Huid NL P 161 U 295 Rare skin diseases Rare disorders due to toxic effects Inherited epidermolysis bullosa ORPHA:79361 Debra NL P 132 U 428 Rare genetic diseases Rare immunological diseases Rare skin diseases Rare genetic diseases Ectodermal dysplasia syndrome ORPHA:79373 Vereniging voor Ectodermale Dysplasie (VVED) P 55 U 1375 Rare skin diseases Rare odontological diseases Ectodermal dysplasia syndrome ORPHA:79373 Vereniging voor Ectodermale Dysplasie (VVED) P 55 U 1376 Rare allergic disease Rare urticaria ORPHA:79384 PP Urticaria P 57 U 1293 Rare hematologic diseases Rare neoplastic diseases Rare skin tumor or hamartoma ORPHA:79386 Huidkanker ST (HUKAS) P 318 U 1864 Rare skin diseases Rare neoplastic diseases Rare skin tumor or hamartoma ORPHA:79386 Neurofibromatosevereniging NL (NFVN) P 30 U 1634 Rare skin diseases Rare neoplastic diseases Rare skin tumor or hamartoma ORPHA:79386 Nevus Netwerk P 141 U 2052 Rare skin diseases Rare neoplastic diseases Rare skin tumor or hamartoma ORPHA:79386 ST Melanoom P 96 U 1863 Rare skin diseases Rare neoplastic diseases Rare skin tumor or hamartoma ORPHA:79386 ST PTEN België-NL P 95 U 711 Rare skin diseases Rare neoplastic diseases Rare skin tumor or hamartoma ORPHA:79386 STSN P 49 U 1404 Rare skin diseases Rare allergic disease Diffuse cutaneous mastocytosis ORPHA:79456 Mastocytosevereniging NL P 83 U 899 Rare hematologic diseases Rare infectious diseases Rare form of salmonellosis ORPHA:795 Zonder patiëntenorganisatie P nvt U nvt Rare disorders due to toxic effects Auto-immune bullous skin diseases ORPHA:79669 Zonder patiëntenorganisatie P nvt U 429 Rare genetic diseases Rare immunological diseases Rare skin diseases Rare renal diseases Sarcoidosis ORPHA:797 Sarcoïdose NL P 40 U 1511 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare respiratory diseases Sarcoidosis ORPHA:797 Sarcoïdose NL P 40 U 1512 Rare respiratory diseases Sarcoidosis ORPHA:797 Sarcoïdose NL P 40 U 1513 Rare neurological diseases Amyotrophic lateral sclerosis ORPHA:803 ALS Patients Connected P 268 U 91 Rare neurological diseases Amyotrophic lateral sclerosis ORPHA:803 ALS Patients Connected P 268 U 90 Rare neurological diseases Amyotrophic lateral sclerosis ORPHA:803 Spierziekten NL P 43 U 1477 Rare neurological diseases Amyotrophic lateral sclerosis ORPHA:803 Spierziekten NL P 43 U 1476 Rare genetic diseases Tuberous sclerosis complex ORPHA:805 STSN P 49 U 1405 Rare neurological diseases Rare neurological diseases Tuberous sclerosis complex ORPHA:805 STSN P 49 U 1406 Rare renal diseases Rare immunological diseases Anti-synthetase syndrome ORPHA:81 Spierziekten NL P 43 U 1478 Rare systemic and rheumatological diseases

Rare hematologic diseases Shwachman-Diamond syndrome ORPHA:811 Shwachman Syndroom Support Holland (SSSH) P 76 U 1010 Rare hematologic diseases Shwachman-Diamond syndrome ORPHA:811 Shwachman Syndroom Support Holland (SSSH) P 76 U 1011 Rare immunological diseases Rare endocrine diseases Silver-Russell syndrome ORPHA:813 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1817 Rare endocrine diseases Silver-Russell syndrome ORPHA:813 SGA Platform P 193 U 2045 Rare inborn errors of metabolism Sjögren-Larsson syndrome ORPHA:816 Nationale Vereniging Sjögrenpatiënten (NVSP) P 22 U 1650 Rare hematologic diseases Hereditary spherocytosis ORPHA:822 ST Zeldzame Bloedziekten - Sferocytose Contactgroep P 75 U 1021 Rare developmental anomalies during Isolated spina bifida ORPHA:823 SBH NL P 286 U 65 embryogenesis Rare neurological diseases Rare neurological diseases Isolated spina bifida ORPHA:823 SBH NL P 286 U 66 Rare hematologic diseases Primary myelofibrosis ORPHA:824 MPN ST P 78 U 2010 Rare hematologic diseases Primary myelofibrosis ORPHA:824 MPN ST P 78 U 2011 Rare neoplastic diseases Rare hematologic diseases Primary myelofibrosis ORPHA:824 ST Hematon P 81 U 995 Rare hematologic diseases Primary myelofibrosis ORPHA:824 ST Hematon P 81 U 994 Rare neoplastic diseases Rare renal diseases Urogenital tract malformation ORPHA:83001 Nierpatiënten Vereniging NL (NVN) P 31 U 1590 Rare urogenital diseases Rare developmental anomalies during Urogenital tract malformation ORPHA:83001 Nierpatiënten Vereniging NL (NVN) P 31 U 1589 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Urogenital tract malformation ORPHA:83001 NLse Klinefelter Vereniging P 117 U 597 Rare urogenital diseases Rare developmental anomalies during Urogenital tract malformation ORPHA:83001 NLse Klinefelter Vereniging P 117 U 596 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Urogenital tract malformation ORPHA:83001 ST MRK Vrouwen P 112 U 625 Rare urogenital diseases Rare developmental anomalies during Urogenital tract malformation ORPHA:83001 ST MRK Vrouwen P 112 U 624 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare infectious diseases Scrub typhus ORPHA:83317 Huid NL P 161 U 296 Rare developmental anomalies during Microtia ORPHA:83463 LaPosa P 17 U 1754 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Microtia ORPHA:83463 LaPosa P 17 U 1755 Rare surgical maxillo-facial diseases Rare developmental anomalies during Microtia ORPHA:83463 ST Eigen Gezicht P 247 U 1934 embryogenesis Rare genetic diseases Rare neurological diseases Rare otorhinolaryngological diseases Rare respiratory diseases Rare sucking/swallowing disorders Rare surgical maxillo-facial diseases Rare surgical thoracic diseases Rare otorhinolaryngological diseases Microtia ORPHA:83463 ST Eigen Gezicht P 247 U 1935 Rare surgical maxillo-facial diseases Rare respiratory diseases Narcolepsy Type 2 ORPHA:83465 Narcolepsie Vereniging NL (NVN) P 210 U 177 Rare neurological diseases Narcolepsy type 2 ORPHA:83465 Narcolepsie Vereniging NL (NVN) P 210 U 176 Rare bone diseases Solitary bone cyst ORPHA:83468 Vereniging Kinderkanker NL P 82 U 953 Rare developmental anomalies during embryogenesis Rare genetic diseases Rare inborn errors of metabolism Rare neoplastic diseases Rare neurological diseases Acute Disseminated Encephalomyelitis ORPHA:83597 Hersenletsel.nl P 91 U 1912 Rare neurological diseases Acute Disseminated Encephalomyelitis ORPHA:83597 MS Vereniging NL P 21 U 1969 Rare neurological diseases Acute Disseminated Encephalomyelitis ORPHA:83597 Oogvereniging P 100 U 1970 Rare neurological diseases Susac syndrome ORPHA:838 Nlse Meningitis Stichting P 118 U 1281 Rare neurological diseases Susac syndrome ORPHA:838 Oogvereniging P 100 U 1977a Rare renal diseases Hinman syndrome ORPHA:84085 Zonder patiëntenorganisatie P nvt U nvt Rare urogenital diseases Rare renal diseases Hinman syndrome ORPHA:84085 Zonder patiëntenorganisatie P nvt U nvt Rare urogenital diseases Rare neoplastic diseases Testicular seminomatous germ cell tumor ORPHA:842 ST Zaadbalkanker P 226 U 1887 Rare neoplastic diseases Testicular seminomatous germ cell tumor ORPHA:842 ST Zaadbalkanker P 226 U 1854 Rare neoplastic diseases Testicular seminomatous germ cell tumor ORPHA:842 Vereniging Kinderkanker NL P 82 U 954 Rare hematologic diseases Congenital dyserythropoietic anemia ORPHA:85 ST AA & PNH P 104 U 664 Rare hematologic diseases Congenital dyserythropoietic anemia ORPHA:85 ST AA & PNH P 104 U 663 Rare hematologic diseases Congenital dyserythropoietic anemia ORPHA:85 ST Zeldzame Bloedziekten - CDA contactgroep P 75 U 1023 Rare hematologic diseases Congenital dyserythropoietic anemia ORPHA:85 ST Zeldzame Bloedziekten - CDA contactgroep P 75 U 1022 Rare gynecologic and obstetric diseases Fetal and neonatal alloimmune thrombocytopenia ORPHA:853 Care4Neo P 114 U 615 Rare immunological diseases Oligoarticular juvenile idiopathic arthritis ORPHA:85410 Jeugdreuma Vereniging NL P 134 U 419 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare immunological diseases Systemic-onset juvenile idiopathic arthritis ORPHA:85414 Jeugdreuma Vereniging NL P 134 U 420 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases Rare immunological diseases Psoriasis-related juvenile idiopathic arthritis ORPHA:85436 Jeugdreuma Vereniging NL P 134 U 421 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare immunological diseases Psoriasis-related juvenile idiopathic arthritis ORPHA:85436 Psoriasispatiënten NL P 307 U 1 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare hematologic diseases AL amyloidosis ORPHA:85443 ST Amyloïdose NL P 138 U 384 Rare transplant-related disorders Rare genetic diseases AA amyloidosis ORPHA:85445 ST Amyloïdose NL P 138 U 385 Rare hematologic diseases Rare neurological diseases Rare ophthalmic disorders Rare renal diseases Rare skin diseases Rare cardiac diseases Rare systemic and rheumatological diseases

Rare neurological diseases ATTRV30M amyloidosis ORPHA:85447 ST Amyloïdose NL P 138 U 386 Rare inborn errors of metabolism Benign adult familial myoclonic epilepsy ORPHA:86814 Epilepsiefonds P 7 U 1805 Rare genetic diseases Rare neurological diseases Rare genetic diseases Down syndrome ORPHA:870 ST Down Syndroom (SDS) P 71 U 1104 Rare neurological diseases Rare intellectual disabillity ORPHA:87277 Zeldsamen P 290 U 47 Rare developmental anomalies during embryogenesis Rare neoplastic diseases Desmoid tumor ORPHA:873 ST Patiëntenplatform Sarcomen P 94 U 746 Rare neoplastic diseases Desmoid tumor ORPHA:873 ST Patiëntenplatform Sarcomen P 94 U 745 Rare endocrine diseases Neuroendocrine neoplasm ORPHA:877 ST NET-Groep P 62 U 1206 Rare neoplastic diseases Rare skin diseases Rare neoplastic diseases Neuroendocrine neoplasm ORPHA:877 ST NET-Groep P 62 U 1208 Rare respiratory diseases Rare gastroenterologic diseases Neuroendocrine neoplasm ORPHA:877 ST NET-Groep P 62 U 1209 Rare neoplastic diseases Rare neoplastic diseases Neuroendocrine neoplasm ORPHA:877 ST NET-Groep P 62 U 1211 Rare endocrine diseases Neuroendocrine neoplasm ORPHA:877 ST NET-Groep P 62 U 1207 Rare endocrine diseases Neuroendocrine neoplasm ORPHA:877 ST NET-Groep P 62 U 1210 Rare hematologic diseases Ideopathic aplastic anemia ORPHA:88 ST AA & PNH P 104 U 665 Rare endocrine diseases Turner syndrome ORPHA:881 Turner Contact NL P 50 U 1403 Rare urogenital diseases Rare inborn errors of metabolism Tyrosinemia type 1 ORPHA:882 NLse Leverpatiënten Vereniging (NLV) P 19 U 1698 Rare otorhinolaryngological diseases Usher syndrome ORPHA:886 Oogvereniging P 100 U 693 Rare otorhinolaryngological diseases Usher syndrome ORPHA:886 ST Ushersyndroom P 240 U 123 Rare gastroenterologic diseases Hepatocellular carcinoma ORPHA:88673 NLse Leverpatiënten Vereniging (NLV) P 19 U 1699 Rare neoplastic diseases Rare hepatic diseases Hepatocellular carcinoma ORPHA:88673 NLse Leverpatiënten Vereniging (NLV) P 19 U 1700 Rare abdominal surgical diseases VACTERL/VATER association ORPHA:887 Vereniging Anusatresie P 120 U 561 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare abdominal surgical diseases VACTERL/VATER association ORPHA:887 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 501 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare cardiac diseases Rare congenital non-syndromic heart malformation ORPHA:88991 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 486 Rare cardiac malformations Rare circulatory system diseases Rare surgical thoracic diseases Rare cardiac malformations Rare congenital non-syndromic heart malformation ORPHA:88991 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 488 Rare developmental anomalies during embryogenesis Rare cardiac malformations Rare congenital non-syndromic heart malformation ORPHA:88991 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 487 Rare endocrine diseases Von Hippel-Lindau disease ORPHA:892 Belangenvereniging Von Hippel-Lindau P 66 U 1121 Rare endocrine diseases Von Hippel-Lindau disease ORPHA:892 Belangenvereniging Von Hippel-Lindau P 66 U 1122 Rare genetic diseases Von Hippel-Lindau disease ORPHA:892 Belangenvereniging Von Hippel-Lindau P 66 U 1123 Rare ophthalmic disorders Rare bone diseases X-linked hypophosphatemia ORPHA:89936 Patiëntenvereniging voor XLH P 293 U 25 Rare systemic and rheumatological diseases Granulomatosis with polyangiitis ORPHA:900 Nierpatiënten Vereniging NL (NVN) P 31 U 1591 Rare immunological diseases

Rare systemic and rheumatological diseases Granulomatosis with polyangiitis ORPHA:900 Vasculitits ST P 51 U 1400 Rare immunological diseases

Rare cardiac diseases Undifferentiated connective tissue syndrome ORPHA:90002 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 468 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare neurological diseases Amyotrophic lateral sclerosis-parkinsonism-dementia complex ORPHA:90020 ALS Patients Connected P 268 U 92 Rare neurological diseases Amyotrophic lateral sclerosis-parkinsonism-dementia complex ORPHA:90020 FTD Lotgenoten P 9 U 1789 Rare neurological diseases Amyotrophic lateral sclerosis-parkinsonism-dementia complex ORPHA:90020 Spierziekten NL P 43 U 1479 Rare ophthalmic disorders Retinopathy of prematurity ORPHA:90050 Oogvereniging P 100 U 694 Rare infectious diseases Sepsis in premature infants ORPHA:90051 Care4Neo P 114 U 616 Rare systemic and rheumatological diseases

Rare immunological diseases Complications after hematopoietic stem cell transplantation ORPHA:90053 ST Hematon P 81 U 996 Rare genetic diseases Rare immunological diseases Complications after hematopoietic stem cell transplantation ORPHA:90053 ST voor Afweerstoornissen (SAS) P 72 U 1102 Rare genetic diseases Rare hepatic diseases Acute liver failure ORPHA:90062 NLse Leverpatiënten Vereniging (NLV) P 19 U 1702 Rare circulatory system diseases Acquired aneurysmal subarachnoid hemorrhage ORPHA:90065 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1893 Rare neurological diseases Rare neurological diseases Acquired aneurysmal subarachnoid hemorrhage ORPHA:90065 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1895 Rare circulatory system diseases Rare neurological diseases Acquired aneurysmal subarachnoid hemorrhage ORPHA:90065 Hersenaneurysma Patiëntenplatform (HPP) P 315 U 1894 Rare systemic or rheumatologic diseases of Localized scleroderma ORPHA:90289 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 469 childhood Rare cardiac diseases Systemic sclerosis ORPHA:90291 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 470 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare systemic and rheumatological diseases Systemic sclerosis ORPHA:90291 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 472

Rare renal diseases Systemic sclerosis ORPHA:90291 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 471 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Systemic sclerosis ORPHA:90291 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 473 Rare systemic and rheumatological diseases

Rare cardiac diseases Systemic sclerosis ORPHA:90291 Nierpatiënten Vereniging NL (NVN) P 31 U 1592 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare systemic and rheumatological diseases Systemic sclerosis ORPHA:90291 Nierpatiënten Vereniging NL (NVN) P 31 U 1594

Rare renal diseases Systemic sclerosis ORPHA:90291 Nierpatiënten Vereniging NL (NVN) P 31 U 1593 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare hematologic diseases Von Willebrand disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1057 Rare hematologic diseases Von Willebrand disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1058 Rare hematologic diseases Von Willebrand disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1054 Rare hematologic diseases Von Willebrand Disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1059 Rare genetic diseases Von Willebrand disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1053 Rare hematologic diseases Rare hematologic diseases Von Willebrand Disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1055 Rare hematologic diseases Von Willebrand disease ORPHA:903 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1056 Rare gastroenterologic diseases Wilson disease ORPHA:905 NLse Leverpatiënten Vereniging (NLV) P 19 U 1704 Rare genetic diseases Rare gastroenterologic diseases Wilson disease ORPHA:905 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1366 Rare genetic diseases Rare bone diseases Rare Endocrine Growth Disease ORPHA:90692 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1818 Rare endocrine diseases Rare bone diseases Rare Endocrine Growth Disease ORPHA:90692 Klub Lange Mensen P 269 U 2053 Rare endocrine diseases Rare bone diseases Rare Endocrine Growth Disease ORPHA:90692 NLse Hypofyse ST (NHS) P 65 U 1137 Rare endocrine diseases Rare bone diseases Rare Endocrine Growth Disease ORPHA:90692 Prader-Willi ST P 236 U 133 Rare endocrine diseases Rare endocrine diseases Disorders of sex development ORPHA:90771 DSD NL P 70 U 1109 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Disorders of sex development ORPHA:90771 DSD NL P 70 U 1110 Rare gynecologic and obstetric diseases Rare urogenital diseases Rare endocrine diseases Disorders of sex development ORPHA:90771 NLse Klinefelter Vereniging P 117 U 598 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Disorders of sex development ORPHA:90771 NLse Klinefelter Vereniging P 117 U 599 Rare gynecologic and obstetric diseases Rare urogenital diseases Rare endocrine diseases Disorders of sex development ORPHA:90771 Turner Contact NL P 50 U 1860 Rare gynecologic and obstetric diseases Rare urogenital diseases Rare genetic diseases Fragile X syndrome ORPHA:908 Fragiele X Vereniging P 10 U 1786 Rare neurological diseases Rare bone diseases Primary lipodystrophy ORPHA:90970 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1367 Rare endocrine diseases Rare genetic diseases Xeroderma Pigmentosum ORPHA:910 Huid NL P 161 U 297 Rare neurological diseases Rare systemic and rheumatological diseases Cryoglobulinemic vasculitis ORPHA:91138 Vasculitits ST P 51 U 1401 Rare immunological diseases

Rare hematologic diseases Hereditary angioedema ORPHA:91378 Vereniging voor angio oedeem P 84 U 895 Rare immunological diseases Rare cardiac diseases Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387 Contactgroep Marfan NL P 147 U 1880 Rare circulatory system diseases Rare genetic diseases Familial thoracic aortic aneurysm and aortic Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387 Contactgroep Marfan NL P 147 U 1879 dissection Rare cardiac diseases Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387 Harteraad P 58 U 1286 Rare circulatory system diseases Rare genetic diseases Rare infectious diseases Lyme disease ORPHA:91546 NLse Vereniging Lyme Patiënten P 27 U 1645 Rare renal diseases Juvenile idiopathic arthritis ORPHA:92 Jeugdreuma Vereniging NL P 134 U 425 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Juvenile idiopathic arthritis ORPHA:92 Jeugdreuma Vereniging NL P 134 U 422 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Juvenile idiopathic arthritis ORPHA:92 Jeugdreuma Vereniging NL P 134 U 423 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare systemic or rheumatologic diseases of Juvenile idiopathic arthritis ORPHA:92 Jeugdreuma Vereniging NL P 134 U 427 childhood Rare systemic and rheumatological diseases Juvenile idiopathic arthritis ORPHA:92 Jeugdreuma Vereniging NL P 134 U 426 Rare immunological diseases

Rare neurological diseases Juvenile idiopathic arthritis ORPHA:92 Jeugdreuma Vereniging NL P 134 U 424 Rare renal diseases Rare systemic or rheumatologic diseases of childhood Rare gastroenterologic diseases Idiopathic achalasia ORPHA:930 Vereniging voor Ouderen en Kinderen met Slokdarmafsluiting (VOKS) P 124 U 502 Rare renal diseases Posterior urethral valve ORPHA:93110 Nierpatiënten Vereniging NL (NVN) P 31 U 1595 Rare urogenital diseases Rare bone diseases Primary bone dysplasia with increased bone density ORPHA:93444 FOP ST NL P 162 U 267 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with decreased bone density ORPHA:93446 Belangenvereniging van Kleine Mensen (BVKM) P 4 U 1819 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with decreased bone density ORPHA:93446 NLse Vereniging van Rugpatiënten 'de Wervelkolom' (NVRR) P 172 U 227 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with decreased bone density ORPHA:93446 Vereniging Ostegenesis Imperfecta (VOI) P 53 U 1379 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with defective bone mineralization ORPHA:93447 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1368 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with disorganized development of skeletal compon ORPHA:93450 FOP ST NL P 162 U 268 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with disorganized development of skeletal compon ORPHA:93450 LGD Alliance NL P 200 U 207 Rare endocrine diseases Rare bone diseases Primary bone dysplasia with disorganized development of skeletal compon ORPHA:93450 Patiëntenvereniging Fibreuze Dysplasie P 246 U 1914 Rare endocrine diseases Rare odontological diseases Cleidocranial dysplasia and isolated cranial ossification defect ORPHA:93451 LaPosa P 17 U 1756 Rare odontological diseases Cleidocranial dysplasia and isolated cranial ossification defect ORPHA:93451 ST Eigen Gezicht P 247 U 117 Rare surgical maxillo-facial diseases Dysostosis with predominant craniofacial involvement ORPHA:93453 LaPosa P 17 U 1757 Rare surgical maxillo-facial diseases Dysostosis with predominant craniofacial involvement ORPHA:93453 ST Eigen Gezicht P 247 U 118 Rare bone diseases Non-syndromic limb reduction defect ORPHA:93457 Handvereniging P 13 U 1778 Rare bone diseases Overgrowth syndrome ORPHA:93460 LaPosa P 17 U 170 Rare endocrine diseases Rare bone diseases Overgrowth syndrome ORPHA:93460 Marshall Smith Syndroom Research Foundation P 146 U 363 Rare endocrine diseases Rare developmental anomalies during Renal or urinary tract malformation ORPHA:93545 Nierpatiënten Vereniging NL (NVN) P 31 U 1596 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Renal or urinary tract malformation ORPHA:93545 Nierpatiënten Vereniging NL (NVN) P 31 U 1598 Rare renal diseases Renal or urinary tract malformation ORPHA:93545 Nierpatiënten Vereniging NL (NVN) P 31 U 1597 Rare renal diseases Renal or urinary tract malformation ORPHA:93545 Nierpatiënten Vereniging NL (NVN) P 31 U 1599 Rare urogenital diseases Rare developmental anomalies during Non-syndromic renal or urinary tract malformation ORPHA:93546 Nierpatiënten Vereniging NL (NVN) P 31 U 1600 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Glomerular disease ORPHA:93548 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 475 Rare genetic diseases Glomerular disease ORPHA:93548 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 474 Rare renal diseases Rare renal diseases Glomerular disease ORPHA:93548 Nierpatiënten Vereniging NL (NVN) P 31 U 1602 Rare genetic diseases Glomerular disease ORPHA:93548 Nierpatiënten Vereniging NL (NVN) P 31 U 1601 Rare renal diseases Rare cardiac diseases Pediatric systemic lupus erythematosus ORPHA:93552 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 476 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare immunological diseases Pediatric systemic lupus erythematosus ORPHA:93552 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 477 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare systemic or rheumatologic diseases of Pediatric systemic lupus erythematosus ORPHA:93552 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 479 childhood Rare neurological diseases Pediatric systemic lupus erythematosus ORPHA:93552 Nationale vereniging voor lupus, APS, sclerodermie en MCTD (NVLE) P 128 U 478 Rare renal diseases Rare systemic or rheumatologic diseases of childhood Rare cardiac diseases Pediatric systemic lupus erythematosus ORPHA:93552 Nierpatiënten Vereniging NL (NVN) P 31 U 1603 Rare renal diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare transplant-related disorders

Rare immunological diseases Pediatric systemic lupus erythematosus ORPHA:93552 Nierpatiënten Vereniging NL (NVN) P 31 U 1604 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare systemic or rheumatologic diseases of Pediatric systemic lupus erythematosus ORPHA:93552 Nierpatiënten Vereniging NL (NVN) P 31 U 1606 childhood Rare neurological diseases Pediatric systemic lupus erythematosus ORPHA:93552 Nierpatiënten Vereniging NL (NVN) P 31 U 1605 Rare renal diseases Rare systemic or rheumatologic diseases of childhood Rare systemic and rheumatological diseases Thrombotic microangiopathy ORPHA:93573 Nierpatiënten Vereniging NL (NVN) P 31 U 1608 Rare immunological diseases

Rare renal diseases Thrombotic microangiopathy ORPHA:93573 Nierpatiënten Vereniging NL (NVN) P 31 U 1607 Rare systemic and rheumatological diseases Thrombotic microangiopathy ORPHA:93573 ST Zeldzame Bloedziekten - TTP Contactgroep P 75 U 1031 Rare immunological diseases

Rare renal diseases Thrombotic microangiopathy ORPHA:93573 ST Zeldzame Bloedziekten - TTP Contactgroep P 75 U 1030 Rare developmental anomalies during Familial cystic renal disease ORPHA:93587 Nierpatiënten Vereniging NL (NVN) P 31 U 1609 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Familial cystic renal disease ORPHA:93587 Nierpatiënten Vereniging NL (NVN) P 31 U 1610 Rare renal diseases Familial cystic renal disease ORPHA:93587 Nierpatiënten Vereniging NL (NVN) P 31 U 1611 Rare renal diseases Familial cystic renal disease ORPHA:93587 Nierpatiënten Vereniging NL (NVN) P 31 U 1612 Rare urogenital diseases Rare renal diseases Nephropathy secondary to a storage or other metabolic disease ORPHA:93593 Nierpatiënten Vereniging NL (NVN) P 31 U 1613 Rare developmental anomalies during Rare renal tubular disease ORPHA:93603 Nierpatiënten Vereniging NL (NVN) P 31 U 1614 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Rare renal tubular disease ORPHA:93603 Nierpatiënten Vereniging NL (NVN) P 31 U 1615 Rare renal diseases Rare renal tubular disease ORPHA:93603 Nierpatiënten Vereniging NL (NVN) P 31 U 1616 Rare renal diseases Rare renal tubular disease ORPHA:93603 Nierpatiënten Vereniging NL (NVN) P 31 U 1617 Rare urogenital diseases Rare developmental anomalies during Rare renal tubular disease ORPHA:93603 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1369 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare renal diseases Rare renal tubular disease ORPHA:93603 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1370 Rare renal diseases Rare renal tubular disease ORPHA:93603 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1371 Rare renal diseases Rare renal tubular disease ORPHA:93603 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1372 Rare urogenital diseases Rare immunological diseases Autoinflammatory syndrome ORPHA:93665 ST KAISZ P 135 U 414 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Autoinflammatory syndrome ORPHA:93665 ST KAISZ P 135 U 415 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare immunological diseases Juvenile dermatomyositis ORPHA:93672 Spierziekten NL P 43 U 1480 Rare neurological diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare systemic and rheumatological diseases Juvenile dermatomyositis ORPHA:93672 Spierziekten NL P 43 U 1481 Rare immunological diseases

Rare neoplastic diseases Schwannomatoses ORPHA:93921 Neurofibromatosevereniging NL (NFVN) P 30 U 1635 Rare renal diseases Isolated epispadias ORPHA:93928 Blaasextrophie NL (BEN) P 108 U 636 Rare urogenital diseases Rare renal diseases Cloacal exstrophy ORPHA:93929 Nierpatiënten Vereniging NL (NVN) P 31 U 1618 Rare urogenital diseases Rare renal diseases Bladder exstrophy ORPHA:93930 Blaasextrophie NL (BEN) P 108 U 637 Rare urogenital diseases Rare neoplastic diseases Non-functioning paraganglioma ORPHA:94080 Bijniervereniging (NVACP) P 64 U 1164 Rare otorhinolaryngological diseases Rare endocrine diseases Non-functioning paraganglioma ORPHA:94080 Bijniervereniging (NVACP) P 64 U 1165 Rare neoplastic diseases Non-functioning paraganglioma ORPHA:94080 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1643 Rare otorhinolaryngological diseases Rare endocrine diseases Non-functioning paraganglioma ORPHA:94080 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1644 Rare surgical maxillo-facial diseases Acalvaria ORPHA:945 LaPosa P 17 U 1758 Rare abdominal surgical diseases Secondary short bowel syndrome ORPHA:95427 Crohn & Colitis NL P 119 U 585 Rare gastroenterologic diseases Rare abdominal surgical diseases Secondary short bowel syndrome ORPHA:95427 Crohn & Colitis NL P 119 U 586 Rare gastroenterologic diseases Rare transplant-related disorders Rare abdominal surgical diseases Congenital tracheomalacia ORPHA:95430 Zonder patiëntenorganisatie P nvt U 552 Rare genetic diseases Rare respiratory diseases Congenital tracheomalacia ORPHA:95430 Zonder patiëntenorganisatie P nvt U 553 Rare surgical thoracic diseases Rare gynecologic and obstetric diseases Twin to twin transfusion syndrome ORPHA:95431 Taps Support P 317 U 1946 Rare neurological diseases Primary progressive aphasia ORPHA:95432 Alzheimer NL P 2 U 1836 Rare disorders due to toxic effects Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum ORPHA:95455 Vereniging van mensen met brandwonden P 231 U 134 Rare genetic diseases Rare immunological diseases Rare skin diseases Rare cardiac diseases Arterial duct anomaly ORPHA:95485 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 489 Rare endocrine diseases Acquired pituitary hormone deficiency ORPHA:95502 NLse Hypofyse ST (NHS) P 65 U 1138 Rare renal diseases Posterior hypospadias ORPHA:95706 DSD NL P 70 U 1112 Rare urogenital diseases Rare endocrine diseases Posterior hypospadias ORPHA:95706 DSD NL P 70 U 1111 Rare gynecologic and obstetric diseases Rare urogenital diseases Rare gynecologic and obstetric diseases Acquired premature ovarian failure ORPHA:95709 Freya P 110 U 630 Rare endocrine diseases Acquired premature ovarian failure ORPHA:95709 Freya P 110 U 629 Rare gynecologic and obstetric diseases Rare endocrine diseases Acquired premature ovarian failure ORPHA:95709 ST POI-POF P 312 U 1866 Rare gynecologic and obstetric diseases Rare endocrine diseases Non acquired premature ovarian failure ORPHA:95710 Freya P 110 U 631 Rare gynecologic and obstetric diseases Rare endocrine diseases Non acquired premature ovarian failure ORPHA:95710 ST POI-POF P 312 U 1867 Rare gynecologic and obstetric diseases Rare neurological diseases Koolen-de Vries syndrome ORPHA:96169 Zeldsamen P 290 U 48 Rare developmental anomalies during embryogenesis Rare otorhinolaryngological diseases Rare otorhinolaryngological malformation ORPHA:96333 LaPosa P 17 U 1759 Rare otorhinolaryngological diseases Rare otorhinolaryngological malformation ORPHA:96333 ST Hoormij P 33 U 1546 Rare urogenital diseases Anorectal Malformations ORPHA:96346 Vereniging Anusatresie P 120 U 564 Rare gastroenterologic diseases Anorectal Malformations ORPHA:96346 Vereniging Anusatresie P 120 U 562 Rare gastroenterologic diseases Anorectal Malformations ORPHA:96346 Vereniging Anusatresie P 120 U 563 Rare abdominal surgical diseases Rare respiratory diseases Eisenmenger syndrome ORPHA:97214 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 1869 Rare inborn errors of metabolism Riboflavin transporter deficiency ORPHA:97229 Spierziekten NL P 43 U 1482 Rare neurological diseases Congenital myopathy ORPHA:97245 Spierziekten NL P 43 U 1483 Rare cardiac diseases Cardiogenic Shock ORPHA:97292 Care4Neo P 114 U 1288 Rare surgical thoracic diseases Thoracic outlet syndrome ORPHA:97330 Zonder patiëntenorganisatie P nvt U nvt Rare circulatory system diseases Dural sinus malformation ORPHA:97339 CMTC-OVM P 92 U 804 Rare neurological diseases Rare neurological diseases Dural sinus malformation ORPHA:97339 CMTC-OVM P 92 U 805 Rare circulatory system diseases Dural sinus malformation ORPHA:97339 HEVAS P 131 U 457 Rare neurological diseases Rare neurological diseases Dural sinus malformation ORPHA:97339 HEVAS P 131 U 458 Rare cardiac diseases Rare cardiac diseases ORPHA:97929 Harteraad P 58 U 1289 Rare cardiac diseases Rare cardiac diseases ORPHA:97929 Spierziekten NL P 43 U 1484 Rare cardiac diseases Rare cardiac diseases ORPHA:97929 ST Noonan Syndroom P 47 U 1412 Rare abdominal surgical diseases Intestinal malformation ORPHA:97945 Maag Lever Darm ST P 105 U 656 Rare developmental anomalies during embryogenesis Rare gastroenterologic diseases Rare surgical thoracic diseases Rare surgical thoracic diseases ORPHA:97962 Contactgroep Marfan NL P 147 U 361 Rare cardiac diseases Rare Surgical Cardiac Disease ORPHA:97965 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 2012 Rare cardiac malformations Rare developmental anomalies during embryogenesis Rare cardiac diseases Rare surgical cardiac disease ORPHA:97965 Patiëntenvereniging Aangeboren Hartafwijkingen P 127 U 2013 Rare cardiac malformations Rare circulatory system diseases Rare genetic diseases Rare respiratory diseases Rare surgical thoracic diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare endocrine diseases Rare endocrine disease ORPHA:97978 Bijniervereniging (NVACP) P 64 U 1166 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare endocrine disease ORPHA:97978 NLse Hypofyse ST (NHS) P 65 U 1139 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare endocrine disease ORPHA:97978 Nlse Vereniging voor Patiënten met Paragangliomen (NVPG) P 29 U 1849 Rare genetic diseases Rare ophthalmic disorders Rare endocrine diseases Rare endocrine disease ORPHA:97978 Schildklier Organisatie NL (SON) P 60 U 1225 Rare genetic diseases Rare ophthalmic disorders Rare neurological diseases Rare headache ORPHA:98022 Hoofdpijnnet P 32 U 1560 Rare immunological diseases Rare systemic or rheumatologic disease ORPHA:98023 Vasculitis ST P 51 U 1402 Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood Rare genetic diseases

Rare gastroenterologic diseases Diaphragmatic or abdominal wall malformation ORPHA:98043 P 122 U 519 Rare abdominal surgical diseases Platform Congenitale Hernia Diafragmatica Rare genetic diseases Central nervous system malformation ORPHA:98044 Spierziekten NL P 43 U 1485 Rare neurological diseases Rare neurological diseases Central nervous system malformation ORPHA:98044 Spierziekten NL P 43 U 1486 Rare genetic diseases Central nervous system malformation ORPHA:98044 Syringomyelie Patiënten Vereniging (SPV) P 177 U 219 Rare neurological diseases Rare neurological diseases Central nervous system malformation ORPHA:98044 Syringomyelie Patiënten Vereniging (SPV) P 177 U 220 Rare genetic diseases Central nervous system malformation ORPHA:98044 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1373 Rare neurological diseases Rare neurological diseases Central nervous system malformation ORPHA:98044 Volwassenen, Kinderen en Stofwisselingsziekten (VKS) P 56 U 1374 Rare infertility disorders Rare male infertility ORPHA:98048 Freya P 110 U 632 Rare infertility disorders Rare male infertility ORPHA:98048 NLse Klinefelter Vereniging P 117 U 600 Rare allergic disease Rare allergic respiratory disease ORPHA:98052 Zonder patiëntenorganisatie P nvt U 554 Rare respiratory diseases Rare developmental anomalies during Rare genetic renal disease ORPHA:98056 Nierpatiënten Vereniging NL (NVN) P 31 U 1619 embryogenesis Rare genetic diseases Rare renal diseases Rare transplant-related disorders Rare urogenital diseases Rare neoplastic diseases Rare urinary tract tumour ORPHA:98058 Leven met blaas- of nierkanker P 98 U 1856 Rare urogenital diseases Rare neoplastic diseases Rare urinary tract tumor ORPHA:98058 Leven met blaas- of nierkanker P 98 U 1855 Rare urogenital diseases Rare neoplastic diseases Rare urinary tract tumour ORPHA:98058 NFK-Patiëntenplatform zeldzame kankers P 18 U 1720 Rare urogenital diseases Rare neoplastic diseases Rare urinary tract tumor ORPHA:98058 NFK-Patiëntenplatform zeldzame kankers P 18 U 1719 Rare urogenital diseases Rare neoplastic diseases Rare digestive tract tumor ORPHA:98059 Alvleeskliervereniging (AVKV) P 87 U 893 Rare neoplastic diseases Rare digestive tract tumor ORPHA:98059 ST Patiëntenplatform Sarcomen P 94 U 747 Rare neoplastic diseases Rare respiratory tumor ORPHA:98060 Longkankervereniging P 204 U 194 Rare respiratory diseases Rare neoplastic diseases Rare otorhinolaryngologic tumor ORPHA:98061 ST Hoormij P 33 U 1547 Rare otorhinolaryngological diseases Rare neoplastic diseases Rare otorhinolaryngologic tumor ORPHA:98061 ST Hoormij P 33 U 1548 Rare neoplastic diseases Rare nervous system tumor ORPHA:98062 P 91 U 820 Rare neurological diseases Hersenletsel.nl Rare neoplastic diseases Rare nervous system tumor ORPHA:98062 Vereniging Kinderkanker NL P 82 U 955 Rare neurological diseases Rare gynecologic and obstetric diseases Rare gynecological tumor ORPHA:98063 ST Olijf P 88 U 882 Rare gynecologic and obstetric diseases Rare gynecological tumor ORPHA:98063 ST Olijf P 88 U 883 Rare neoplastic diseases Rare gynecologic and obstetric diseases Rare gynecological tumor ORPHA:98063 ST Olijf P 88 U 884 Rare neoplastic diseases Rare endocrine diseases 46,XX disorder of sex development induced by androgens excess ORPHA:98078 DSD NL P 70 U 1113 Rare urogenital diseases Rare developmental anomalies during Autosomal anomaly ORPHA:98127 ST Down Syndroom (SDS) P 71 U 1105 embryogenesis Rare genetic diseases Rare developmental anomalies during Autosomal anomaly ORPHA:98127 Zeldsamen P 290 U 49 embryogenesis Rare genetic diseases Rare genetic diseases Malformation syndrome with hamartosis ORPHA:98196 ST PTEN België-NL P 95 U 712 Rare neurological diseases Rare neurological diseases Category Combined dystonia ORPHA:98203 Dystonie Vereniging P 59 U 1237 Rare developmental anomalies during Ehlers-Danlos syndrome ORPHA:98249 EDS Fonds P 309 U 1845 embryogenesis Rare genetic diseases Rare skin diseases Rare systemic and rheumatological diseases Rare circulatory system diseases Ehlers-Danlos syndrome ORPHA:98249 EDS Fonds P 309 U 1844 Rare genetic diseases Rare inborn errors of metabolism Rare skin diseases Rare developmental anomalies during Ehlers-Danlos syndrome ORPHA:98249 Vereniging van Ehlers Danlos Patiënten (VED) P 148 U 352 embryogenesis Rare genetic diseases Rare skin diseases Rare systemic and rheumatological diseases

Rare circulatory system diseases Ehlers-Danlos syndrome ORPHA:98249 Vereniging van Ehlers Danlos Patiënten (VED) P 148 U 351 Rare genetic diseases Rare inborn errors of metabolism Rare skin diseases Rare infectious diseases Infectious encephalitis ORPHA:98252 Nlse Meningitis Stichting P 118 U 594 Rare neurological diseases Postinfectious encephalitis ORPHA:98253 Nlse Meningitis Stichting P 118 U 1913 Rare neurological diseases Infantile Epilepsy Syndrome ORPHA:98258 Epilepsiefonds P 7 U 1806 Rare hematologic diseases Myeloproliferative neoplasm ORPHA:98274 MPN ST P 78 U 1007 Rare transplant-related disorders Rare hematologic diseases Myeloproliferative neoplasm ORPHA:98274 MPN ST P 78 U 1008 Rare neoplastic diseases Rare hematologic diseases Myeloproliferative neoplasm ORPHA:98274 ST Hematon P 81 U 1967 Rare transplant-related disorders Rare hematologic diseases Myeloproliferative neoplasm ORPHA:98274 ST Hematon P 81 U 1966 Rare neoplastic diseases Rare hematologic diseases Plasma cell tumor ORPHA:98282 ST Hematon P 81 U 997 Rare transplant-related disorders Rare allergic disease Mastocytosis ORPHA:98292 Mastocytosevereniging NL P 83 U 900 Rare hematologic diseases Rare allergic disease Mastocytosis ORPHA:98292 Mastocytosevereniging NL P 83 U 901 Rare hematologic diseases Rare hematologic diseases Hodgkin lymphoma ORPHA:98293 ST Hematon P 81 U 998 Rare renal diseases Idiopathic interstitial pneumonia ORPHA:98300 Belangenvereniging Longfibrosepatiënten NL P 152 U 347 Rare cardiac malformations Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare respiratory diseases Idiopathic interstitial pneumonia ORPHA:98300 Belangenvereniging Longfibrosepatiënten NL P 152 U 348 Rare hematologic diseases Constitutional anemia due to iron metabolism disorder ORPHA:98360 Zonder patiëntenorganisatie P nvt U 1024 Rare inborn errors of metabolism Rare hematologic diseases Rare constitutional hemolytic anemia due to a red cell membrane anomaly ORPHA:98364 ST Zeldzame Bloedziekten P 75 U 1026 Rare hematologic diseases Rare constitutional hemolytic anemia due to a red cell membrane anomaly ORPHA:98364 ST Zeldzame Bloedziekten P 75 U 1025 Rare hematologic diseases Hereditary stomatocytosis ORPHA:98365 ST Zeldzame Bloedziekten P 75 U 1027 Rare hematologic diseases Rare constitutional hemolytic anemia due to an enzyme disorder ORPHA:98369 ST Zeldzame Bloedziekten - PKD Contactgroep P 75 U 1028 Rare hematologic diseases Autoimmune hemolytic anemia ORPHA:98375 ST Zeldzame Bloedziekten - AIHA Contactgroep P 75 U 1032 Rare hematologic diseases Autoimmune hemolytic anemia ORPHA:98375 ST Zeldzame Bloedziekten - AIHA Contactgroep P 75 U 1033 Rare respiratory diseases Pulmonary agenesis ORPHA:984 Zonder patiëntenorganisatie P nvt U 555 Rare surgical thoracic diseases Rare hematologic diseases Primary acquired red cell aplasia ORPHA:98421 ST AA & PNH P 104 U 666 Rare hematologic diseases Rare coagulation disorder ORPHA:98429 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1061 Rare hematologic diseases Rare coagulation disorder ORPHA:98429 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1060 Rare neurological diseases Skeletal muscle disease ORPHA:98472 Spierziekten NL P 43 U 1488 Rare neurological diseases Skeletal muscle disease ORPHA:98472 Spierziekten NL P 43 U 1489 Rare neurological diseases Skeletal muscle disease ORPHA:98472 Spierziekten NL P 43 U 1487 Rare neurological diseases Muscular dystrophy ORPHA:98473 Spierziekten NL P 43 U 1490 Rare neurological diseases Idiopathic inflammatory myopathy ORPHA:98482 Spierziekten NL P 43 U 1493 Rare neurological diseases Idiopathic inflammatory myopathy ORPHA:98482 Spierziekten NL P 43 U 1492 Rare immunological diseases Idiopathic inflammatory myopathy ORPHA:98482 Spierziekten NL P 43 U 1491 Rare neurological diseases Rare respiratory diseases Rare skin diseases Rare systemic and rheumatological diseases Rare systemic or rheumatologic diseases of childhood

Rare neurological diseases Neuromuscular junction disease ORPHA:98491 Spierziekten NL P 43 U 1494 Rare neurological diseases Neuromuscular junction disease ORPHA:98491 Spierziekten NL P 43 U 1495 Rare neurological diseases Acquired neuromuscular junction disease ORPHA:98494 Spierziekten NL P 43 U 1496 Rare neurological diseases Genetic neuromuscular junction disease ORPHA:98495 Spierziekten NL P 43 U 1497 Rare neurological diseases Rare peripheral neuropathy ORPHA:98496 Spierziekten NL P 43 U 1499 Rare neurological diseases Rare Peripheral Neuropathy ORPHA:98496 Spierziekten NL P 43 U 1498 Rare neurological diseases Genetic peripheral neuropathy ORPHA:98497 Spierziekten NL P 43 U 1500 Rare neurological diseases Motor Neuron Disease ORPHA:98503 Spierziekten NL P 43 U 1501 Rare ophthalmic disorders Rare lens disease ORPHA:98639 Oogvereniging P 100 U 695 Rare genetic diseases Color vision disease ORPHA:98658 Oogvereniging P 100 U 696 Rare ophthalmic disorders Rare neurological diseases Hereditary optic neuropathy ORPHA:98671 Belangenvereniging LOA/LHON P 274 U 85 Rare immunological diseases Rare ophthalmic disorders Rare neurological diseases Hereditary optic neuropathy ORPHA:98671 Cure ADOA Foundation P 281 U 72 Rare immunological diseases Rare ophthalmic disorders Rare neurological diseases Autosomal dominant optic atrophy ORPHA:98672 Cure ADOA Foundation P 281 U 73 Rare immunological diseases Rare ophthalmic disorders Rare neurological diseases Autosomal recessive isolated optic atrophy ORPHA:98676 Oogvereniging P 100 U 697 Rare immunological diseases Rare ophthalmic disorders Rare inborn errors of metabolism Oculocutaneous or ocular albinism ORPHA:98706 Oogvereniging P 100 U 698 Rare genetic diseases Uveitis ORPHA:98715 Oogvereniging P 100 U 699 Rare ophthalmic disorders Rare neurological diseases Autoimmune neurological channelopathy ORPHA:98750 Nlse Meningitis Stichting P 118 U 1974 Rare neurological diseases Autoimmune neurological channelopathy ORPHA:98750 Spierziekten NL P 43 U 1502 Rare hematologic diseases Chronic myelomonocytic leukemia ORPHA:98823 ST Hematon P 81 U 999 Rare neoplastic diseases Rare allergic disease Indolent systemic mastocytosis ORPHA:98848 Mastocytosevereniging NL P 83 U 902 Rare hematologic diseases Rare allergic disease Systemic mastocytosis with associated hematologic neoplasm ORPHA:98849 Mastocytosevereniging NL P 83 U 903 Rare hematologic diseases Rare allergic disease Aggressive systemic mastocytosis ORPHA:98850 Mastocytosevereniging NL P 83 U 904 Rare hematologic diseases Rare allergic disease Mast cell leukemia ORPHA:98851 Mastocytosevereniging NL P 83 U 905 Rare hematologic diseases Rare allergic disease Mast cell leukemia ORPHA:98851 ST Hematon P 81 U 905 Rare hematologic diseases Rare genetic diseases Hemophilia A ORPHA:98878 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1062 Rare hematologic diseases Rare genetic diseases Hemophilia B ORPHA:98879 NLse Vereniging van Hemofilie-Patiënten (NVHP) P 74 U 1063 Rare hematologic diseases Rare neurological diseases Autosomal dominant cerebellar ataxia ORPHA:99 ADCA/Ataxie Vereniging NL P 1 U 1842 Rare inborn errors of metabolism Autosomal dominant cerebellar ataxia ORPHA:99 ADCA/Ataxie Vereniging NL P 1 U 1841 Rare genetic diseases Rare neurological diseases Rare developmental anomalies during Fetal akinesia deformation sequence ORPHA:994 Spierziekten NL P 43 U 1503 embryogenesis Rare genetic diseases Rare neurological diseases Rare endocrine diseases Pituitary adenoma ORPHA:99408 NLse Hypofyse ST (NHS) P 65 U 1140 Rare genetic diseases leber plus disease ORPHA:99718 Belangenvereniging LOA/LHON P 274 U 86 Rare ophthalmic disorders Rare cardiac diseases Rare familial disorder with hypertrophic cardiomyopathy ORPHA:99739 Harteraad P 58 U 1292 Rare odontological diseases Oligodontia ORPHA:99798 ST Eigen Gezicht P 247 U 119 Rare odontological diseases Oligodontia ORPHA:99798 Vereniging voor Ectodermale Dysplasie (VVED) P 55 U 1925 Rare gastroenterologic diseases Neuronal intestinal pseudoobstruction ORPHA:99811 Vereniging Ziekte van Hirschsprung P 123 U 517 Rare infectious diseases Yellow fever ORPHA:99829 Zonder patiëntenorganisatie P nvt U nvt Rare neoplastic diseases Thymoma ORPHA:99867 Longkankervereniging P 204 U 195 Rare respiratory diseases Rare gynecologic and obstetric diseases Malignant Granulosaceltumor of ovary ORPHA:99915 ST Olijf P 88 U 885 Rare hematologic diseases Acute graft versus host disease ORPHA:99920 ST Hematon P 81 U 1000 Rare immunological diseases Rare transplant-related disorders Rare immunological diseases Acute graft versus host disease ORPHA:99920 ST Hematon P 81 U 1001 Rare genetic diseases Rare hematologic diseases Chronic graft versus host disease ORPHA:99921 ST Hematon P 81 U 1002 Rare immunological diseases Rare transplant-related disorders Rare hepatic diseases Klatskin tumor ORPHA:99978 NLse Leverpatiënten Vereniging (NLV) P 19 U 1705 Rare gynecologic and obstetric diseases Twin reversed arterial perfusion sequence Pending Care4Neo P 114 U 619 Rare gynecologic and obstetric diseases Twin anemia polycythemia sequence Pending Care4Neo P 114 U 618 Rare gynecologic and obstetric diseases Selective IUGR Pending Care4Neo P 114 U 617 Rare gynecologic and obstetric diseases Twin reversed arterial perfusion sequence Pending Taps Support P 317 U 1955 Rare gynecologic and obstetric diseases Twin anemia polycythemia sequence Pending Taps Support P 317 U 1954 Rare gynecologic and obstetric diseases Selective IUGR Pending Taps Support P 317 U 1953 Rare infectious diseases Implant-Related Infections Pending Zonder patiëntenorganisatie P nvt U nvt